Dietary practices in pyridoxine non-responsive homocystinuria: a European survey
| Autor: | C. Jankowski, C. Ferguson, H. Zweers, T.A.M. van den Hurk, Edel Murphy, P. Hallam, Esmeralda Martins, D. Egli, D. Webster, U. Meyer, Sharon Evans, P. Schick, F. Eyskens, R. Link, Louise Robertson, M. Heddrich-Ellerbrok, J. Jacobs, Anne Daly, C. Maritz, A. Faria, J. Stafford, Marjorie Dixon, R. Thom, E. Müller, J. Wildgoose, Júlio César Rocha, M.F. Almeida, R. Lilje, E. Carbasius Weber, F.J. White, Anita MacDonald, A. Terry, S. Adam, Robin H. Lachmann, K. Luyten, Heidi Chan, S. Lowry, Katharina Dokoupil, M. van Rijn, I. Saruggia, H. Champion, A. van Teefelen-Heithoff, L. Stoelen |
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| Přispěvatelé: | Faculteit Medische Wetenschappen/UMCG |
| Rok vydání: | 2013 |
| Předmět: |
Male
Homocysteine Endocrinology Diabetes and Metabolism Biochemistry THERAPY SUPPLEMENTATION chemistry.chemical_compound Endocrinology Betaine Methionine Surveys and Questionnaires BETA-SYNTHASE DEFICIENCY Child POPULATION education.field_of_study Metabolic disorder Protein restricted diet Pyridoxine PREVALENCE Europe Treatment Outcome Child Preschool Female Homocystinuria medicine.drug Adult medicine.medical_specialty Adolescent Population DIAGNOSIS Internal medicine Genetics medicine Diet Protein-Restricted Humans Medical prescription Molecular gastro-enterology and hepatology [IGMD 2] education Molecular Biology business.industry Infant NATURAL-HISTORY medicine.disease chemistry CLASSICAL HOMOCYSTINURIA EXPERIENCE Human medicine business |
| Zdroj: | Molecular Genetics and Metabolism, 110, 4, pp. 454-9 Molecular Genetics and Metabolism, 110, 454-9 Molecular genetics and metabolism Molecular Genetics and Metabolism, 110(4), 454-459. ACADEMIC PRESS INC ELSEVIER SCIENCE |
| ISSN: | 1096-7206 1096-7192 |
| Popis: | Background: Within Europe, the management of pyridoxine (B-6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice.Aim: A comparison of dietetic management practices of patients with B-6 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% >16 years of age) with HCU were identified. The majority (66%; n= 119) were on dietary treatment (1-10 years, 90%; 11-16 years, 82%; and >16 years, 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: 1-10 years, 12 g; 11-16 years, 11 g; and > 16 years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20g; and >16 years, 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 B-6 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. (C) 2013 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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