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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

6. Dietary practices in propionic acidemia: A European survey

Author

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

Published
2017
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7. 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

8. Dietary practices in isovaleric acidemia: A European survey

Author

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

Published
2017
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9. Dietary practices in methylmalonic acidaemia: a European survey.

Author

Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, 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 KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, and MacDonald A

Subjects
Adolescent, Amino Acid Metabolism, Inborn Errors epidemiology, Child, Child, Preschool, Cross-Sectional Studies, Europe epidemiology, Female, Humans, Infant, Infant, Newborn, Male, Nutritional Support, Amino Acid Metabolism, Inborn Errors diet therapy, Dietary Proteins administration & dosage, Surveys and Questionnaires standards
Abstract

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 guide future practice.

Published
2020
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10. Delayed diagnosis of phenylketonuria - a case report of two siblings.

Author

Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, and Sharma R

Subjects
Adult, Humans, Male, Neuropsychological Tests, Phenylketonurias blood, Phenylketonurias psychology, Phenylketonurias urine, Delayed Diagnosis, Phenylketonurias diagnosis, Siblings
Abstract

Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with a delayed diagnosis of PKU. This case history highlights such an occurrence. PKU should be considered as an important differential in the diagnosis of adult patients with learning difficulties, seizures and behavioural problems. It would be prudent to instigate plasma and urine amino/organic acid analyses in adult patients with unexplained neuropsychological manifestations.

Published
2014
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11. Folate nutrition in early pregnancy.

Author

Rogozinski H, Ankers C, Lennon D, Wild J, Schorah C, Sheppard S, and Smithells RW

Subjects
Adolescent, Adult, Erythrocytes metabolism, Female, Folic Acid blood, Humans, Maternal Age, Nausea metabolism, Pregnancy Complications metabolism, Pregnancy Trimester, First, Smoking, Social Class, Vomiting metabolism, Folic Acid administration & dosage, Pregnancy
Abstract

Mean daily folate intakes of 195 women in the first trimester of pregnancy were assessed by 5-7 day weighed dietary records. Intakes for total folate ranged from 64.7 to 302.0 micrograms/day with a mean intake of 148.0 micrograms/day. The lowest intakes were associated with social classes III, IV and V, maternal age less than 20 years and vomiting on three or more days per week.

Published
1983

12. [Efficacy of dimethylpolysiloxane in Elugan preparations].

Author

Neumeyer G and Rogozinski HJ

Subjects
Duodenal Diseases drug therapy, Gastritis drug therapy, Humans, Inflammation drug therapy, Antifoaming Agents therapeutic use, Dimethylpolysiloxanes therapeutic use, Flatulence drug therapy, Silicones therapeutic use, Surface-Active Agents therapeutic use
Published
1979

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