RESUMO
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.
Assuntos
Aminoácidos Essenciais/metabolismo , Dieta com Restrição de Proteínas , Distúrbios Congênitos do Ciclo da Ureia/dietoterapia , Distúrbios Congênitos do Ciclo da Ureia/patologia , Adolescente , Adulto , Aminoácido N-Acetiltransferase/deficiência , Arginase/metabolismo , Acidúria Argininossuccínica/dietoterapia , Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida/deficiência , Criança , Pré-Escolar , Citrulinemia/dietoterapia , Europa (Continente) , Humanos , Lactente , Recém-Nascido , Ornitina Carbamoiltransferase/metabolismo , Inquéritos e Questionários , Resultado do Tratamento , Distúrbios Congênitos do Ciclo da Ureia/enzimologiaRESUMO
Three patients with glycogen storage disease type I (GSD-I), three with glycogen storage disease type III (GSD-III) and one with pyruvate carboxylase deficiency (PCD) could be successfully switched over from continuous nocturnal gastric drip feeding (GDF) to nocturnal feeding with uncooked cornstarch in yoghurt or "quark" (CSF) at the age of 4-20 years. The new kind of therapy is much more convenient for the patients. When followed up to 30 months, patients on CSF showed the same clinical and laboratory findings as during the last two years with GDF. CSF was not introduced to three patients with GSD-I. Two of them refused the permanent starch-yoghurt meals. In the third patient the morning blood glucose concentrations were too variable.