Search

Your search keyword '"Eyskens F"' showing total 170 results
Start Over Author "Eyskens F"
170 results on '"Eyskens F"'

1. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Published
2019
Full Text
View/download PDF

3. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

Author

Rossi A., Hoogeveen I. J., Lubout C. M. A., de Boer F., Fokkert-Wilts M. J., Rodenburg I. L., van Dam E., Grunert S. C., Martinelli D., Scarpa M., Dekker H., te Boekhorst S. T., van Spronsen F. J., Derks T. G. J., de Baere L., Bellettato C., Bosch A. M., Sallago J. B., Botto L. D., Brunner-Krainz M., Caroe C., Casswall T., Contreras Pulido E. L., Couce M. L., Dessein A. -F., Donati M. A., Eyskens F., Moura De Souza C. F., Fraile P. Q., Fuchs S. A., Gasperini S., Haas D., Hernandez E. M., Hochuli M., Hugon A., Karall D., Koeberl D., Labrune P., Lajic S., van Lingen C., Maiorana A., Mention K., Moenig I., Mohnike K., Montanari C., Nassogne M. -C., Parini R., Rahman S., Reyes M., Schwantje M., Skouma A., Strisciuglio P., Thiel M., Weinstein D., Ziagaki A., Amsterdam Gastroenterology Endocrinology Metabolism, Center for Liver, Digestive and Metabolic Diseases (CLDM), Rossi, A., Hoogeveen, I. J., Lubout, C. M. A., de Boer, F., Fokkert-Wilts, M. J., Rodenburg, I. L., van Dam, E., Grunert, S. C., Martinelli, D., Scarpa, M., Dekker, H., te Boekhorst, S. T., van Spronsen, F. J., Derks, T. G. J., de Baere, L., Bellettato, C., Bosch, A. M., Sallago, J. B., Botto, L. D., Brunner-Krainz, M., Caroe, C., Casswall, T., Contreras Pulido, E. L., Couce, M. L., Dessein, A. -F., Donati, M. A., Eyskens, F., Moura De Souza, C. F., Fraile, P. Q., Fuchs, S. A., Gasperini, S., Haas, D., Hernandez, E. M., Hochuli, M., Hugon, A., Karall, D., Koeberl, D., Labrune, P., Lajic, S., van Lingen, C., Maiorana, A., Mention, K., Moenig, I., Mohnike, K., Montanari, C., Nassogne, M. -C., Parini, R., Rahman, S., Reyes, M., Schwantje, M., Skouma, A., Strisciuglio, P., Thiel, M., Weinstein, D., and Ziagaki, A.

Subjects
Adult, Male, medicine.medical_specialty, Telemedicine, Adolescent, fatty acid oxidation disorders, glycogen storage diseases, eHealth, emergency treatment, hypoglycemia, telemedicine, Lipid Metabolism, Inborn Error, Context (language use), Hypoglycemia, Glycogen Storage Disease Type I, Single Center, Lipid Metabolism, Inborn Errors, Young Adult, glycogen storage disease, Retrospective Studie, Genetics, Medicine, Humans, Adverse effect, Child, Genetics (clinical), Retrospective Studies, Coma, business.industry, Fatty Acids, Infant, Newborn, Infant, Original Articles, Fasting, Middle Aged, medicine.disease, fatty acid oxidation disorder, Child, Preschool, Emergency medicine, Observational study, Original Article, Female, medicine.symptom, business, Oxidation-Reduction, Fatty Acid, Human
Abstract

INTRODUCTION: Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking.METHODS: This is a retrospective, observational, single-center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Data on hospital admissions, initial laboratory results and serious adverse events were collected. Subsequently, the website www.emergencyprotocol.net was generated in the context of the CONNECT MetabERN eHealth project following multiple meetings, protocol revisions and translations.RESULTS: Representing 470 emergency protocol years, 127 hospital admissions were documented in 54/128(42%) patients who made use of emergency letters generated based on the generic emergency protocol. Hypoglycemia (here defined as glucose concentration 5 years. Convulsions, coma or death were not documented. By providing basic information, emergency letters for individual patients with hepatic GSD or the main FAOD can be generated at www.emergencyprotocol.net, in 9 different languages.DISCUSSION: Generic emergency protocols are safe and easy for home management by the caregivers and the first hour in-hospital management to prevent metabolic emergencies in patients with hepatic GSD and medium-chain Acyl CoA dehydrogenase deficiency. The website www.emergencyprotocol.net is designed to support families and healthcare providers to generate personalized emergency letters for patients with hepatic GSD and the main FAOD. This article is protected by copyright. All rights reserved.

Published
2021

6. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

Vliet, K. van, Ginkel, W.G. van, Jahja, R., Daly, A., MacDonald, A., Santra, S., Laet, C. de, Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., Hasselt, P.M. van, Wilcox, G., Morris, A.A., Jameson, E.A., Parra, A. de la, Arias, C., Garcia, Maria I., Cornejo, V., Bosch, A.M., Hollak, C.E., Rubio-Gozalbo, M.E., Brouwers, M., Hofstede, F.C., Vries, M.C. de, Janssen, M.C.H., Ploeg, A.T. van der, Langendonk, J.G., Huijbregts, S.C.J., Spronsen, F.J. van, Vliet, K. van, Ginkel, W.G. van, Jahja, R., Daly, A., MacDonald, A., Santra, S., Laet, C. de, Goyens, P.J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., Hasselt, P.M. van, Wilcox, G., Morris, A.A., Jameson, E.A., Parra, A. de la, Arias, C., Garcia, Maria I., Cornejo, V., Bosch, A.M., Hollak, C.E., Rubio-Gozalbo, M.E., Brouwers, M., Hofstede, F.C., Vries, M.C. de, Janssen, M.C.H., Ploeg, A.T. van der, Langendonk, J.G., Huijbregts, S.C.J., and Spronsen, F.J. van

Abstract

Item does not contain fulltext, Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.

Published
2022

7. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Author

van Wegberg, Annemiek M.J., primary, Trefz, Friedrich, additional, Gizewska, Maria, additional, Ahmed, Sibtain, additional, Chabraoui, Layachi, additional, Zaki, Maha S., additional, Maillot, François, additional, van Spronsen, Francjan J., additional, Ahring, K., additional, Al Mutairi, F., additional, Arnoux, J.B., additional, Ballhausen, D., additional, Baruteau, J., additional, Bernstein, L., additional, Bijarnia-Mahay, S., additional, Boemer, F., additional, Bordugo, A., additional, Brodosi, L., additional, Brooks, S., additional, Chew, H.B., additional, Chyz, K., additional, Coker, M., additional, Collingwood, C., additional, Cornejo, V., additional, Couce, M.L., additional, Cozens, A., additional, Dahri, S., additional, Das, A.M., additional, de Laet, C., additional, de las Heras Montero, J., additional, de Vreugd, A., additional, Debray, F.G., additional, Dercksen, M., additional, Descartes, M., additional, Diogo, L., additional, Drogari, E., additional, Eiroa, H., additional, Eminoglu, F.T., additional, Enns, G.M., additional, Eyskens, F., additional, Feillet, F., additional, Ford, S., additional, Franzson, L., additional, Freisinger, P., additional, Garcia, P., additional, Grafakou, O., additional, Gramer, G., additional, Gray, S., additional, Groselj, U., additional, Grünert, S.C., additional, Haas, D., additional, Handoom, B., additional, Harte, T.B., additional, Hendriksz, C., additional, Heredia, R.S., additional, Hertecant, J., additional, Hoi-Yee Wu, T., additional, Inwood, A., additional, Jamuar, S.S., additional, Jesina, P., additional, Jonsson, J.J., additional, Jovanovic, A., additional, Kern, I., additional, Kilavuz, S., additional, Knerr, I., additional, Kor, D., additional, Korycinska-Chaaban, D., additional, Kreile, M., additional, Kumru, B., additional, Lanpher, B., additional, Lapatto, R., additional, Lavigne, C., additional, Leao-Teles, E., additional, Leuzzi, V., additional, Longo, N., additional, Lopez-Uriarte, A., additional, Lubout, C.M.A., additional, MacDonald, A., additional, Megdad, E.M., additional, Mitchell, J., additional, Mochel, F., additional, Moreno-Lozano, P.J., additional, Morris, A., additional, Moura de Souza, C.F., additional, Munoz, T., additional, Nevalainen, P.I., additional, Oscarson, M., additional, Õunap, K., additional, Paci, S., additional, Pastores, G.M., additional, Pearl, P.L., additional, Piazzon, F.B., additional, Pitt, J., additional, Poon, G., additional, Porta, F., additional, Presner, N., additional, Rabaty, A.A., additional, Reinson, K., additional, Reismann, P., additional, Rink, T., additional, Rocha, J.C., additional, Rodrigues, E., additional, Saini, A.G., additional, Sanchez-Valle, A., additional, Sander, J., additional, Sarkhail, P., additional, Schwartz, I.V.D., additional, Sharma, R., additional, Sheng, B., additional, Siriwardena, K., additional, Sirrs, S., additional, Sjarif, D.R., additional, Sondheimer, N., additional, Sparkes, R., additional, Specola, N., additional, Stepien, K.M., additional, Szatmari, I., additional, Tchan, M., additional, Tkemaladze, T., additional, Tran, C., additional, Valle, M.G., additional, Vela-Amieva, M., additional, Verdaguer, M.L., additional, Vergano, S.A., additional, Vermeersch, P., additional, Vulturar, R., additional, Wagenmakers, M.A.E.M., additional, Weinhold, N., additional, Williams, A.B., additional, Wilson, W.G., additional, Zafeiriou, D., additional, Zhang, H., additional, Ziagaki, A., additional, and Zolkowska, J., additional

Published
2021
Full Text
View/download PDF

8. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Author

Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐ Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐ Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Additional individual contributors from E‐IMD, Pediatrics, Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), and E-IMD

Subjects
Adult, Male, Ornithine, medicine.medical_specialty, Propionic Acidemia, Adolescent, organic acidurias, Protein metabolism, Ornithine transcarbamylase, amino acid mixtures, Gastroenterology, Reference Daily Intake, Young Adult, chemistry.chemical_compound, Valine, Internal medicine, Genetics, medicine, Humans, Hyperammonemia, dietary and supplemental treatment, Registries, Amino Acids, branched-chain amino acids, Child, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders, Inborn, Genetics (clinical), Retrospective Studies, L-citrulline and L-arginine, business.industry, urea-cycle disorders, Infant, Europe, Cross-Sectional Studies, Treatment Outcome, chemistry, Methylmalonic aciduria, Child, Preschool, Urea cycle, Dietary Supplements, Feasibility Studies, Female, Human medicine, Leucine, business
Abstract

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L-valine (57%), and L-isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L-valine, L-isoleucine, and L-leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM-UCD, the median natural protein prescription lay below RDA, while their L-valine and L-isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM-UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation. In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and disturbed plasma BCAA ratios, AAMs-UCD seemed to help UCD patients obtain normal BCAA levels. In patients with OTC-D, CPS1-D, and HHH syndrome, selective L-citrulline seemed preferable to selective L-arginine supplementation.

Published
2019

10. 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

11. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Author

Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja), Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), and Djordjevic, M. (Maja)

Abstract

Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs.

Published
2020
Full Text
View/download PDF

12. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Author

Posset, R, Garbade, SF, Gleich, F, Gropman, AL, de Lonlay, P, Hoffmann, GF, Garcia-Cazorla, A, Nagamani, SCS, Baumgartner, MR, Schulze, A, Dobbelaere, D, Yudkoff, M, Kölker, S, Zielonka, M, Ah Mew, N, Berry, SA, McCandless, SE, Coughlin, C, Enns, G, Gallagher, RC, Burrage, LC, Seminara, J, Harding, CO, Burgard, P, Le Mons, C, Merritt, JL, II, Stricker, T, Bedoyan, JK, Berry, GT, Diaz, GA, Wong, D, Tuchman, M, Waisbren, S, Weisfeld-Adams, JD, Burlina, AB, Leão Teles, E, Pedrón-Giner, C, Lund, AM, Dionisi-Vici, C, Williams, Monique, Mütze, U, Karall, D, Blasco-Alonso, J, Couce, ML, Sykut-Cegielska, J, Augoustides-Savvopoulou, P, Ruiz Gomez, A, Bari?, I, Schiff, M, Chien, YH, Lindner, M, Chabrol, B, Skouma, A, Zeman, J, Sokal, E, Santer, R, Eyskens, F, Freisinger, P, Peña-Quintana, L, Roland, D, Cortès-Saladelafont, E, Djordjevic, M, Posset, R, Garbade, SF, Gleich, F, Gropman, AL, de Lonlay, P, Hoffmann, GF, Garcia-Cazorla, A, Nagamani, SCS, Baumgartner, MR, Schulze, A, Dobbelaere, D, Yudkoff, M, Kölker, S, Zielonka, M, Ah Mew, N, Berry, SA, McCandless, SE, Coughlin, C, Enns, G, Gallagher, RC, Burrage, LC, Seminara, J, Harding, CO, Burgard, P, Le Mons, C, Merritt, JL, II, Stricker, T, Bedoyan, JK, Berry, GT, Diaz, GA, Wong, D, Tuchman, M, Waisbren, S, Weisfeld-Adams, JD, Burlina, AB, Leão Teles, E, Pedrón-Giner, C, Lund, AM, Dionisi-Vici, C, Williams, Monique, Mütze, U, Karall, D, Blasco-Alonso, J, Couce, ML, Sykut-Cegielska, J, Augoustides-Savvopoulou, P, Ruiz Gomez, A, Bari?, I, Schiff, M, Chien, YH, Lindner, M, Chabrol, B, Skouma, A, Zeman, J, Sokal, E, Santer, R, Eyskens, F, Freisinger, P, Peña-Quintana, L, Roland, D, Cortès-Saladelafont, E, and Djordjevic, M

Published
2020

17. Abstracts of poster presentations

Author

Agostinho, A. B., Rosi, F., Tabucchi, A., Carlucci, F., Pizzichini, M., Arnér, Elias S. J., Eriksson, Staffan, Barankiewicz, J., Trembacz, H., Zwierzchowski, L., Bergman, A. M., van Haperen, V. W. T. Ruiz, Veerman, G., Vermorken, J. B., Peters, G. J., Bory, C., Chantin, C., Rocca, J. L., Bzowska, A., Ananlev, A. V., Ramzaeva, N., Alksins, E., Maurins, J. A., Kulikowska, E., Shugar, D., Davies, P. M., Fairbanks, L. D., Simmonds, H. A., De Graaf, T. W., Van Dijk, W., de Jong D., Huysmans F., De Abreu R., Monnens L., Dijkman H., van Liebergen F., Assmann K., Duley, J. A., Hanefeld, F., Fabianowska-Majewska, K., Duley, A. J., Greger, J., Wasiak, T., Gathof, B. S., Ried, T., Zwieauer, K., Gresser, U., Griesmacher, A., Weigel, G., Müller, M. M., Gross, M., Empl, W., Guisan, B., Roch-Ramel, F., Harley, E. H., Baumgarten, I., Kaletha K., Nagel-Starczynowska G., Karlsson, Anna, Lambooy, L., Boerbooms, A., De Abreu, R., van de Putte, L., Stolk, J., vd Pulte, L., Komissarov, A. A., Romanova, D. V., Debabov, V. G., Kozlov, A. M., Sokolov, V. B., Aksinenko, A. Y., Fetisov, V. I., Komoriya, Keiji, Osada, Yoshio, Hasegawa, Masaichi, Kondo, Shiro, Couch, Ronald C., Griffin, Travis B., Lakaschus, G., Löffler, H. G., Löffler, M., Jiménez, M. López, Salinero, M. A., Guilarte, J. Sánchez, Matesanz, J. Perianes, Medina, L. Vigil, Galiana, J. Ruiz, Marlewski, M., Smolenski, R. T., Swierczynski, J., Rutkowski, B., Zydowo, M. M., Micheli, V., Pescaglini, M., Sestini, S., Jacomelli, G., Magagnoli, C., Pompucci, G., Hayek, G., Mimouni, M., Boptemps, F., Van den Berghe, G., Miranda, M. E., Mateos, F. A., Herrero, E., González, A., Puig, J. G., Miscetti, P., Minelli, A., Proietti, A., Moroni, M., Mezzasoma, I., Moro, J. F., Noam, I., Cameron, J. S., McBride, M. B., Mathew, C. G. P., Ogg, C. S., Puig, J. G., Miranda, M. E., Mateos, F. A., Luzi, L., Noordhuis, P., Kazemier, K., Kaspers, G. J. L., Overgaard-Hansen, K., Marcussen, M., Klenow, H., Pelatti, A., Quaratino, C. P., D'Amario, C., Tentarelli, R., Giacomello, A., Rocchigiani, M., Iacomelli, G., Pandolfi, M. L., Arezzini, L., Terzuoli, L., Pagani, R., Di Sciascio, N., Colosimo, A., Ranieri-Paggi, M., Ronca, F., Brown, P. E., Moir, A. J. G., Raggi, A., Schwendel A., Grune T., Siems W. G., Holzhuetter H. G., Sebesta, I., Krijt, J., Vondrak, K., Kmoch, S., Hrebicek, M., Senatore, G., Del Lucchese, G., Martini, C., Lucacchini, A., Siems, W. G., Mertsch, K., Blasig, I., Grune, T., Skladanowski, A. C., Hoffmann, C. S., Krass, J. D., Makarewicz, W., Jastorff, B., Slingerland, R. J., Bodlaender, J. M., Van Lenthe, H., Elzinga, L., Van Kuilenburg, A. B. P., Voûte, P. A., Van Gennip, A. H., Smid, K., van der Wilt, C. L., Aherne, G. W., Pinedo, H. M., Sorqi, M. L., Rucci, C., Zoppini, A., Staub M., Sasvári-Székely M., Spasokukockaja T., Hrabák A., Stolk, J. N., De Abreu, R. A., De Koning, D. G. M., Lambooy, L. H. M., Kerstens, P. J. S. M., Boerbooms, A. M. Th., van de Putte, L. B. A., Szüts, P., Szirovicza, éva, åbrahám, C. S., Havass, Z., Jezewska, M. M., Van Acker, K. J., Eyskens, F. J., Verkerk, R. H., Scharpé, S. S., van Kuppevelt, T. H., Veerkamp, J. H., Sabina, R. L., Van Laar J. A. M., Mayhew E., Durrani F. A., Peters G. J., Rustum Y. M., Wang, J. Z., Leoncini, R., Vannoni, D., and Marinello, E.

Published
1993
Full Text
View/download PDF

18. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., Berry, G.T., Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., and Berry, G.T.

Abstract

Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Methods: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Results: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. Conclusion: This study describes the natural history of classic galactosemia based on the hitherto largest data set

Published
2019
Full Text
View/download PDF

19. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce Pico, María de la Luz, Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T., Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce Pico, María de la Luz, Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Abstract

Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Methods: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Results: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. Conclusion: This study describes the natural history of classic galactosemia based on the hitherto largest data set.

Published
2019

20. The natural history of classic galactosemia: Lessons from the GalNet registry

Author

Infectieziekten onderzoek3 (Bogaert), UMC Utrecht, Metabole ziekten patientenzorg, HAG Hart- Vaatziekten, Other research (not in main researchprogram), JC onderzoeksprogramma Cardiovasculaire Epidemiologie, AIOS Psychiatrie, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T., Infectieziekten onderzoek3 (Bogaert), UMC Utrecht, Metabole ziekten patientenzorg, HAG Hart- Vaatziekten, Other research (not in main researchprogram), JC onderzoeksprogramma Cardiovasculaire Epidemiologie, AIOS Psychiatrie, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., and Berry, G. T.

Published
2019

21. The natural history of classic galactosemia: lessons from the GalNet registry

Author

Rubio-Gozalbo, ME, Haskovic, M, Bosch, AM, Burnyte, B, Coelho, AI, Cassiman, D, Couce, ML, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, MT, Grunewald, S, Haberle, J, Hochuli, M, Hubert, A, Huidekoper, Hidde, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, YE, Langendonk, Janneke, Moeslinger, D, Mueller-Wieland, D, Murphy, E, Ounap, K, Ramadza, D, Rivera, IA, Scholl-Buergi, S, Stepien, KM, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, Reinder, Vries, M, Waisbren, SE, Welsink-Karssies, MM, Wortmann, SB, Gautschi, M, Treacy, EP, Berry, GT, Rubio-Gozalbo, ME, Haskovic, M, Bosch, AM, Burnyte, B, Coelho, AI, Cassiman, D, Couce, ML, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, MT, Grunewald, S, Haberle, J, Hochuli, M, Hubert, A, Huidekoper, Hidde, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, YE, Langendonk, Janneke, Moeslinger, D, Mueller-Wieland, D, Murphy, E, Ounap, K, Ramadza, D, Rivera, IA, Scholl-Buergi, S, Stepien, KM, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, Reinder, Vries, M, Waisbren, SE, Welsink-Karssies, MM, Wortmann, SB, Gautschi, M, Treacy, EP, and Berry, GT

Published
2019

23. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Author

Molema, Femke, primary, Gleich, Florian, additional, Burgard, Peter, additional, van der Ploeg, Ans T., additional, Summar, Marshall L., additional, Chapman, Kimberly A., additional, Lund, Allan M., additional, Rizopoulos, Dimitris, additional, Kölker, Stefan, additional, Williams, Monique, additional, Hörster, F., additional, Jelsig, A.M., additional, de Lonlay, P., additional, Wijburg, F.A., additional, Bosch, A., additional, Freisinger, P., additional, Posset, R., additional, Augoustides-Savvopoulou, P., additional, Avram, P., additional, Deleanu, C., additional, Baumgartner, M.R., additional, Häberle, J., additional, Blasco-Alonso, J., additional, Burlina, A.B., additional, Rubert, L., additional, Cazorla, A. Garcia, additional, Saladelafont, E. Cortes I., additional, Dionisi-Vici, C., additional, Martinelli, D., additional, Dobbelaere, D., additional, Mention, K., additional, Grünewald, S., additional, Chakrapani, A., additional, Hwu, Wuh-Liang, additional, Chien, Yin-Hsiu, additional, Lee, Ni-Chung, additional, Karall, D., additional, Scholl-Bürgi, S., additional, De Laet, C., additional, Matsumoto, S., additional, de Meirleir, L., additional, Schiff, M., additional, Peña-Quintana, L., additional, Djordjevic, M., additional, Sarajlija, A., additional, Sykut-Cegielska, J., additional, Wisniewska, A., additional, Leao-Teles, E., additional, Alves, S., additional, Vara, R., additional, Vives-Pinera, I., additional, Gil-Ortega, D., additional, Morris, A., additional, Zeman, J., additional, Honzik, T., additional, Chabrol, B., additional, Arnaudo, F., additional, Cano, A., additional, Thompson, N., additional, Eyskens, F., additional, Lindner, M., additional, Lüsebrink, N., additional, Jalan, A., additional, Sokal, E., additional, Legros, V., additional, Nassogne, M.C., additional, and Barić, I., additional

Published
2019
Full Text
View/download PDF

24. 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
Full Text
View/download PDF

25. 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

26. 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
Full Text
View/download PDF

27. Kidney transplantation in patients with Fabry disease

Author

Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder Plassmann G, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser AC, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne MC, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger JM, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain DP, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann HP, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Di Vito R, Burlina A, Burlina AP, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe Ø, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba MA, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado FJ, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Walter K, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox TM, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L., STRISCIUGLIO, PIETRO, Cybulla, M, Walter, Kn, Schwarting, A, Divito, R, Feriozzi, S, Sunder Plassmann, G, Binder, C, Kotanko, P, Kroepfl, T, Plecko, B, Bodamer, O, Hauser, Ac, Kleinert, J, Kristoferitsch, W, Schreiber, W, Georges, B, Nassogne, Mc, Pirson, Y, Dehout, F, Henry, F, Roland, D, Vauthier, L, Goyens, P, Mazoin, N, Van Maldergem, L, Eyskens, F, Bultas, J, Karetová, D, Linhart, A, Dostalova, G, Choukroun, G, Berthelot, J, Hardy, P, Carey Reomonnay, S, Lacombe, D, Bataille, P, Benziane, S, Mittelberger, Jm, Thevenot, C, Dobbelaere, D, Hachulla, E, Dussol, B, Reade, R, Khau van Kien, A, Kaminsky, P, Guyot, C, Lino, M, Ghafari, T, Germain, Dp, Knebelmann, B, Lidove, O, Ouali, N, Touati, G, Monlun, E, Jaussaud, R, Richalet, B, Klotz, V, Andres, E, Caraman, D, Bazex, J, Perrichot, R, Hennermann, J, von Arnim Baas, A, Stolz, S, Hoffmann, B, Chrobot, E, Grabbe, S, Jansen, T, Neumann, Hp, Schluh, G, Gal, A, Muschol, N, Shäfer, E, Ullrich, K, Das, A, Illsinger, S, Lücke, T, Bähner, F, Baron, K, Beck, M, Bruns, K, Delgado Sanchez, S, Hartung, R, Kalkum, G, Kampmann, C, Keilmann, A, Lackner, K, Pitz, S, Whybra, C, Wiethoff, C, Koletzko, B, Pontz, B, Böttcher, T, Miethe, S, Rolfs, A, Davydenko, I, Wanner, C, Maródi, L, Gabrielli, O, Gobbi, S, Concolino, D, Strisciuglio, Pietro, Zampetti, A, Borsini, W, Buchner, S, Menni, F, Parini, R, Ravaglia, R, Santus, F, Di Vito, R, Burlina, A, Burlina, Ap, Manara, R, Antuzzi, D, Castorina, M, Ricci, R, Kaarbøe, Ø, Skarbøvik, A, Houge, G, Svarstad, E, Tøndel, C, Barba, Ma, Botella, R, Franco, A, Torras, J, Gómez Huertas, E, Torregrosa, V, Fernández, V, Paniagua, J, Rodriguez, F, Herrera, J, Febrer, I, Perez Garcia, A, Martin, I, Barbado, Fj, Garcia de Lorenzo, A, López, M, González, J, Ballarin, J, Torra, R, Hernández, S, Ara, J, Bonal, J, Pintos, G, Andreu, J, Rivera, A, Oqvist, B, Huyen Do, U, Barbey, F, Hayoz, D, Theytaz, J, Schärer, M, Schulthess, G, Steinmann, B, Walter, K, Widmer, U, Hollak, C, Ormel, E, van Duinen, A, Vetter, A, Corcoran, M, Cox, Tm, Deegan, P, Ramaswami, U, Wright, N, Baker, R, Blincoe, M, Bruce, R, Burns, A, Close, L, Davey, C, Elliott, J, Elliott, P, Evans, S, Ginsberg, L, Hajioff, D, Hughes, D, Ioannidis, A, Keshav, S, Mehta, A, Milligan, A, Orteu, C, and Richfield, L.

Published
2009

30. An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

Author

Schoser, B., primary, Byrne, B., additional, Eyskens, F., additional, Hiwot, T., additional, Hughes, D., additional, Kissel, J., additional, Mengel, E., additional, Mozaffar, T., additional, Pestronk, A., additional, Roberts, M., additional, Sivakumar, K., additional, Statland, J., additional, Young, P., additional, Heusner, C., additional, and Dummer, W., additional

Published
2015
Full Text
View/download PDF

31. Rare inborn errors of metabolism in adults: the lysosomal storage disorders

Author

Eyskens F

Subjects
Adult, Pathology, medicine.medical_specialty, Palliative care, biology, business.industry, Palliative Care, Lysosomal storage disorders, General Medicine, Metabolism, Bioinformatics, medicine.disease, biology.organism_classification, Lysosomal Storage Diseases, medicine.anatomical_structure, Phenotype, Lysosome, medicine, Lysosomal storage disease, Belgica, Humans, Human medicine, Congenital disease, business, Randomized Controlled Trials as Topic
Abstract

(2009). RARE INBORN ERRORS OF METABOLISM IN ADULTS: THE LYSOSOMAL STORAGE DISORDERS. Acta Clinica Belgica: Vol. 64, No. 6, pp. 534-539.

Published
2010

34. Dietary practices in pyridoxine non-responsive homocystinuria: A European survey.

Author

Adam, S., Almeida, M.F., Carbasius Weber, E., Champion, H., Chan, H., Daly, A., Dixon, M., Dokoupil, K., Egli, D., Evans, S., Eyskens, F., Faria, A., Ferguson, C., Hallam, P., Heddrich-Ellerbrok, M., Jacobs, J., Jankowski, C., Lachmann, R., Lilje, R., Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., Martins, E., Meyer, U., Muller, E., Murphy, E., Robertson, L.V., Rocha, J.C., Saruggia, I., Schick, P., Stafford, J., Stoelen, L., Terry, A., Thom, R., Hurk, T. van den, Rijn, M. van de, Teefelen-Heithoff, A. van, Webster, D., White, F.J., Wildgoose, J., Zweers, H., Adam, S., Almeida, M.F., Carbasius Weber, E., Champion, H., Chan, H., Daly, A., Dixon, M., Dokoupil, K., Egli, D., Evans, S., Eyskens, F., Faria, A., Ferguson, C., Hallam, P., Heddrich-Ellerbrok, M., Jacobs, J., Jankowski, C., Lachmann, R., Lilje, R., Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., Martins, E., Meyer, U., Muller, E., Murphy, E., Robertson, L.V., Rocha, J.C., Saruggia, I., Schick, P., Stafford, J., Stoelen, L., Terry, A., Thom, R., Hurk, T. van den, Rijn, M. van de, Teefelen-Heithoff, A. van, Webster, D., White, F.J., Wildgoose, J., and Zweers, H.

Abstract

1 december 2013, Item does not contain fulltext, BACKGROUND: Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice. AIM: A comparison of dietetic management practices of patients with B6 non-responsive HCU in European centres. METHODS: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium). RESULTS: 181 patients (73% >16years of age) with HCU were identified. The majority (66%; n=119) were on dietary treatment (1-10years, 90%; 11-16years, 82%; and >16years, 58%) with or without betaine and 34% (n=62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10years, 12g; 11-16years, 11g; and >16years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10years, 13g; 11-16years, 20g; and >16years, 38g. Fifty-two percent (n=15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free l-amino acid supplement was prescribed for 86% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied. CONCLUSION: In B6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines.

Published
2013

35. 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

36. 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

37. Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Author

Adam, S., primary, Almeida, M.F., additional, Carbasius Weber, E., additional, Champion, H., additional, Chan, H., additional, Daly, A., additional, Dixon, M., additional, Dokoupil, K., additional, Egli, D., additional, Evans, S., additional, Eyskens, F., additional, Faria, A., additional, Ferguson, C., additional, Hallam, P., additional, Heddrich-Ellerbrok, M., additional, Jacobs, J., additional, Jankowski, C., additional, Lachmann, R., additional, Lilje, R., additional, Link, R., additional, Lowry, S., additional, Luyten, K., additional, MacDonald, A., additional, Maritz, C., additional, Martins, E., additional, Meyer, U., additional, Müller, E., additional, Murphy, E., additional, Robertson, L.V., additional, Rocha, J.C., additional, Saruggia, I., additional, Schick, P., additional, Stafford, J., additional, Stoelen, L., additional, Terry, A., additional, Thom, R., additional, van den Hurk, T., additional, van Rijn, M., additional, van Teefelen-Heithoff, A., additional, Webster, D., additional, White, F.J., additional, Wildgoose, J., additional, and Zweers, H., additional

Published
2013
Full Text
View/download PDF

38. Dietary management of urea cycle disorders: European practice

Author

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

Published
2013
Full Text
View/download PDF

40. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome

Author

Jaeken, J., Martens, K., Francois, I., Eyskens, F., Lecointre, C., Derua, R., Meulemans, S., Slootstra, J.W., Waelkens, E., de Zegher, F., Creemers, J.W.M., Matthijs, G., Jaeken, J., Martens, K., Francois, I., Eyskens, F., Lecointre, C., Derua, R., Meulemans, S., Slootstra, J.W., Waelkens, E., de Zegher, F., Creemers, J.W.M., and Matthijs, G.

Abstract

In 11 patients with a recessive congenital disorder, which we refer to as ¿the hypotonia-cystinuria syndrome,¿ microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found. Patients present with generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL. PREPL is localized in the cytosol and shows homology with prolyl endopeptidase and oligopeptidase B. Substitution of the predicted catalytic residues (Ser470, Asp556, and His601) by alanines resulted in loss of reactivity with a serine hydrolase-specific probe. In sharp contrast to prolyl oligopeptidase and oligopeptidase B, which require both aminoterminal and carboxyterminal sequences for activity, PREPL activity appears to depend only on the carboxyterminal domain. Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome.

Published
2006

45. Cataract en xanthomen: casuistiek.

Author

Mebis, J., Slabbynk, H., Verhulst, J., Eyskens, F., Verrips, A., Mahler, C., Mebis, J., Slabbynk, H., Verhulst, J., Eyskens, F., Verrips, A., and Mahler, C.

Abstract

Item does not contain fulltext

Published
1999

48. Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

Author

Rooms, L, primary, Reyniers, E, additional, Wuyts, W, additional, Storm, K, additional, Van Luijk, R, additional, Scheers, S, additional, Wauters, J, additional, Van Den Ende, J, additional, Biervliet, M, additional, Eyskens, F, additional, Van Goethem, G, additional, Laridon, A, additional, Ceulemans, B, additional, Courtens, W, additional, and Kooy, RF, additional

Published
2005
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results