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1. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.

Abstract

Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to

Published
2020

2. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.

Abstract

Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to

Published
2020

3. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.

Abstract

Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to

Published
2020

4. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., and MacDonald, A.

Abstract

Contains fulltext : 205374.pdf (publisher's version ) (Open Access), Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. Methods: A cross sectional questionnaire (survey monkey(R)) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. Results: Weaning started at 17-26weeks in 85% (n=81/95) of centres, >26weeks in 12% (n=11/95) and<17weeks in 3% (n=3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n=48/95) of centres introduced Phe containing foods at 17-26weeks and 48% (n=46/95) at >26weeks. First solids were mainly low Phe vegetables (59%, n=56/95) and fruit (34%, n=32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n=49/95) of centres predominantly from Northern and Southern Europe and 48% (n=46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n=39/95) of centres at infant age 26-36weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n=35/95) at infant age>1y mainly from Southern Europe. 53% (n=50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. Conclusions: Weaning strategies vary throughout European PKU centres. There

Published
2019

5. Weaning practices in phenylketonuria vary between health professionals in Europe.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, MacDonald, A, UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, and MacDonald, A

Abstract

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throu

Published
2019

6. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., and MacDonald, A.

Abstract

Contains fulltext : 205374.pdf (publisher's version ) (Open Access), Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. Methods: A cross sectional questionnaire (survey monkey(R)) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. Results: Weaning started at 17-26weeks in 85% (n=81/95) of centres, >26weeks in 12% (n=11/95) and<17weeks in 3% (n=3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n=48/95) of centres introduced Phe containing foods at 17-26weeks and 48% (n=46/95) at >26weeks. First solids were mainly low Phe vegetables (59%, n=56/95) and fruit (34%, n=32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n=49/95) of centres predominantly from Northern and Southern Europe and 48% (n=46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n=39/95) of centres at infant age 26-36weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n=35/95) at infant age>1y mainly from Southern Europe. 53% (n=50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. Conclusions: Weaning strategies vary throughout European PKU centres. There

Published
2019

7. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. Atik, Barrio-Carreras, D., Quintana, A. Belanger, Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., Leo, S. De, Desloovere, A., Meyer, A, Theux, A. De, Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Gingell, C., Goncalves, C., Ozel, H. Gokmen, Grimsley, A., Gugelmo, G., Gyure, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jorg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koc, N., Kok, I.L., Kozanoglu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Lubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedron-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Dionigi, A. Re, Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A, Ruiz, M., Saligova, J., Gutierrez-Sanchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Gizewska, M., Terry, A., Wegberg, A.M.J. van, Zuvadelli, J., and MacDonald, A.

Abstract

Contains fulltext : 205374.pdf (publisher's version ) (Open Access), Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. Methods: A cross sectional questionnaire (survey monkey(R)) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. Results: Weaning started at 17-26weeks in 85% (n=81/95) of centres, >26weeks in 12% (n=11/95) and<17weeks in 3% (n=3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n=48/95) of centres introduced Phe containing foods at 17-26weeks and 48% (n=46/95) at >26weeks. First solids were mainly low Phe vegetables (59%, n=56/95) and fruit (34%, n=32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n=49/95) of centres predominantly from Northern and Southern Europe and 48% (n=46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n=39/95) of centres at infant age 26-36weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n=35/95) at infant age>1y mainly from Southern Europe. 53% (n=50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. Conclusions: Weaning strategies vary throughout European PKU centres. There

Published
2019

8. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

9. Early feeding practices in infants with phenylketonuria across Europe

Author

UCL - (SLuc) Unité d'endocrinologie pédiatrique, Thom, R., De Theux, A., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, Audrey, Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Meyer, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., UCL - (SLuc) Unité d'endocrinologie pédiatrique, Thom, R., De Theux, A., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, Audrey, Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Meyer, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., and Robertson, L.

Abstract

BACKGROUND: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. METHODS: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. RESULTS: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. DISCUSSION: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding dev

Published
2018

10. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

11. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

12. Early feeding practices in infants with phenylketonuria across Europe

Author

Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

13. Dietary practices in isovaleric acidemia: A European survey

Author

Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., Macdonald, A., Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., and Macdonald, A.

Abstract

Contains fulltext : 169955.pdf (publisher's version ) (Open Access), BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. RESULTS: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. CONCLUSIONS: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

Published
2017

14. Dietary practices in isovaleric acidemia: A European survey

Author

Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., Macdonald, A., Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., and Macdonald, A.

Abstract

Contains fulltext : 169955.pdf (publisher's version ) (Open Access), BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. RESULTS: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. CONCLUSIONS: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

Published
2017

15. Dietary practices in isovaleric acidemia: A European survey

Author

Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., Macdonald, A., Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Verge, S. Le, Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K. Vande, Dam, E. van, Hurk, T. van den, Ploeg, L. van der, Driessche, M. Van, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H.E., and Macdonald, A.

Abstract

Contains fulltext : 169955.pdf (Publisher’s version ) (Open Access), BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. RESULTS: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. CONCLUSIONS: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

Published
2017

16. Dietary management of urea cycle disorders: European practice.

Author

Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

1 december 2013, Item does not contain fulltext, BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.

Published
2013

17. Dietary management of urea cycle disorders: European practice

Author

UCL - (SLuc) Centre de pathologie anorectale de l'enfant, Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, Martine, Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.van, van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., UCL - (SLuc) Centre de pathologie anorectale de l'enfant, Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, Martine, Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.van, van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. Results: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16. y and 30% (n=137) >. 16. y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. Conclusions: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required. © 2013 Elsevier Inc.

Published
2013

18. Dietary management of urea cycle disorders: European practice.

Author

Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H., Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R.G., Jouault, C., Laguerre, C., Verge, S. Le, Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., nde Kerckhove, K. Va, Rijn, M. van de, Teeffelen-Heithoff, A. van, Wegberg, A.M.J. van, Wyk, K. van, Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

01 december 2013, Item does not contain fulltext, BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.

Published
2013

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