Dietary management of urea cycle disorders: UK practice

作者：Adam S; Champion H; Daly A; Dawson S; Dixon M; Dunlop C; Eardley J; Evans S; Ferguson C; Jankowski C; Lowry S; MacDonald A^*; Maritz C; Micciche A; Robertson L; Stafford J; Terry A; Thom R; van Wyk K; Webster D; White F J; Wildgoose J

来源：Journal of Human Nutrition and Dietetics, 2012, 25(4): 398-404.

DOI：10.1111/j.1365-277X.2012.01259.x

• branch chain amino acids
• essential amino acids
• metabolic
• protein-restricted diet
• urea cycle disorders

Adam S., Champion H., Daly A., Dawson S., Dixon M., Dunlop C., Eardley J., Evans S., Ferguson C., Jankowski C., Lowry S., MacDonald A., Maritz C., Micciche A., Robertson L., Stafford J., Terry A., Thom R., van Wyk K., Webster D., White F.J. & Wildgoose J. on behalf of the British Inherited Metabolic Diseases Group (BIMDG) Dietitian's Group. (2012) Dietary management of urea cycle disorders: UK practice. J Hum Nutr Diet. 25, 398404 Abstract Background: There is no published data describing UK dietary management of urea cycle disorders (UCD). The present study describes dietary practices in UK inherited metabolic disorder (IMD) centres. Methods: Cross-sectional data from 16 IMD centres were collected by a questionnaire describing the management of UCD patients on prescribed protein-restricted diets. Results: One hundred and seventy-five patients [N-acetylglutamate synthase deficiency, n = 3; carbamoyl phosphate synthase deficiency (CPS), n = 8; ornithine transcarbamoylase deficiency (OTC), n = 75; citrullinaemia, n = 41; argininosuccinic aciduria (ASA), n = 36; arginase deficiency, n = 12] were reported; 70% (n = 123) aged 016 years; 30% (n = 52) >16 years. Prescribed median protein intake decreased with age (06 months: 2 g kg-1 day-1; 712 months: 1.6 g kg-1 day-1; 110 years: 1.3 g kg-1 day-1; 1116 years: 0.9 g kg-1 day-1 and >16 years: 0.8 g kg-1 day-1) with little variation between disorders. Adult protein prescription ranged 0.41.2 g kg-1 day-1 (4060 g day-1). In the previous 2 years, 30% (n = 53) were given essential amino acid supplements (EAAs) (CPS, n = 2; OTC, n = 20; citrullinaemia, n = 15; ASA, n = 7; arginase deficiency, n = 9). EAAs were prescribed for low plasma quantitative essential amino acids (n = 13 centres); inadequate natural protein intake (n = 11) and poor metabolic control (n = 9). From diagnosis, one centre prescribed EAAs for all patients and one centre for severe defects only. Only 3% (n = 6) were given branch chain amino acid supplements. Enteral feeding tubes were used by 25% (n = 44) for feeds and 3% (n = 6) for medications. Oral energy supplements were prescribed in 17% (n = 30) of cases. Conclusions: In the UK, protein restriction based on World Health Organization safe intakes of protein, is the principle dietary treatment for UCD. EAA supplements are prescribed mainly on clinical need. Multicentre collaborative research is required to define optimal dietary treatments.

• 出版日期2012-8