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International practices in the dietary management of fructose 1-6 biphosphatase deficiency

التفاصيل البيبلوغرافية
العنوان: International practices in the dietary management of fructose 1-6 biphosphatase deficiency
المؤلفون: U. Meyer, R. Pretese, Abhijit Ricky Pal, G. Caine, E. Sjoqvist, A. Dianin, Laurie Bernstein, R. Akroyd, M. van Rijn, Sharon Evans, M. Ziadlou, I. L. Kok, C. Timmer, E. Megdad, T.A.M. van den Hurk, G. Gugelmo, Y. Atik Altınok, Anita MacDonald, Majid Alfadhel, J. Serrano-Nieto, R. B. Oliveira, Sandrine Dubois, Inderdip Hunjan, Lucy White, Marjorie Dixon, S. Rosenbaum-Fabian, A. Pozzoli, E. Drogari, Alex Pinto, Carina Heidenborg, Barbara Cochrane, Júlio César Rocha, S. Delaunay, A. Liguori, E. Cameron, Joanna Gribben, R. Carruthers, S.M. Bernabei, D. Mayr, B. Kumru, G. Bruni, F. de Boer, Anne Daly, H. Zweers
المساهمون: Ege Üniversitesi, Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13,
Orphanet Journal of Rare Diseases, 13, pp.
Orphanet journal of rare diseases, 13(1). BioMed Central
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Fructose-1,6-Diphosphatase Deficiency, medicine.medical_specialty, Dietary restrictions, lcsh:Medicine, 030105 genetics & heredity, Hypoglycemia, 03 medical and health sciences, chemistry.chemical_compound, All institutes and research themes of the Radboud University Medical Center, Fructose 1,6 bisphosphatase deficiency, Internal medicine, Surveys and Questionnaires, Dietary Carbohydrates, Medicine, Humans, Pharmacology (medical), Medical prescription, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Uncooked cornstarch, Fructose 1, business.industry, Research, Fasting tolerance, Metabolic disorder, lcsh:R, Dietary management, Fructose, Metabolic acidosis, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Fasting, 6 bisphosphatase deficiency, medicine.disease, Regimen, Cross-Sectional Studies, chemistry, Lactic acidosis, Dietary Supplements, Acidosis, Lactic, business
الوصف: WOS: 000423688500002
PubMed ID: 29370874
Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency. Methods: A cross-sectional questionnaire (13 questions) was emailed to all members of the Society for the Study of Inborn Errors of Metabolism (SSIEM) and a wide database of inherited metabolic disorder dietitians. Results: Thirty-six centres reported the dietary prescriptions of 126 patients with FBPase deficiency. Patients' age at questionnaire completion was: 1-10y, 46% (n = 58), 11-16y, 21% (n = 27), and >16y, 33% (n = 41). Diagnostic age was: 16y, 2% (n = 2). Seventy-five per cent of centres advocated dietary restrictions. This included restriction of: high sucrose foods only (n = 7 centres, 19%); fruit and sugary foods (n = 4, 11%); fruit, vegetables and sugary foods (n = 13, 36%). Twenty-five per cent of centres (n = 9), advised no dietary restrictions when patients were well. A higher percentage of patients aged >16y rather than 16y, 85% (n = 35/41). Patients classified as having a normal fasting tolerance increased with age from 30% in 1-10y, to 36% in 11-16y, and 58% in >16y, but it was unclear if fasting tolerance was biochemically proven. Twenty centres (56%) routinely prescribed uncooked cornstarch (UCCS) to limit overnight fasting in 47 patients regardless of their actual fasting tolerance (37%). All centres advocated an emergency regimen mainly based on glucose polymer for illness management. Conclusions: Although all patients were prescribed an emergency regimen for illness, use of sucrose and fructose restricted diets with UCCS supplementation varied widely. Restrictions did not relax with age. International guidelines are necessary to help direct future dietary management of FBPase deficiency.
ERDF - Programa Operacional Competitividade e Internacionalizacao - COMPETE [POCI-01-0145-FEDER-007746]; FCT - Fundacao para a Ciencia e a Tecnologia within CINTESIS, RD Unit [UID/IC/4255/2013]
This article was supported by ERDF through the operation POCI-01-0145-FEDER-007746 funded by the Programa Operacional Competitividade e Internacionalizacao - COMPETE2020 and by National Funds through FCT - Fundacao para a Ciencia e a Tecnologia within CINTESIS, R&D Unit (reference UID/IC/4255/2013).
وصف الملف: image/pdf; application/pdf
اللغة: English
تدمد: 1750-1172
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e306cd9cd351d24ee56e05a22264debb
https://dspace.library.uu.nl/handle/1874/375211
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....e306cd9cd351d24ee56e05a22264debb
قاعدة البيانات: OpenAIRE
الوصف
تدمد:17501172