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Dietary management of urea cycle disorders: UK practice

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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, 398–404

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 0–16 years; 30% (n = 52) >16 years. Prescribed median protein intake decreased with age (0–6 months: 2 g kg−1 day−1; 7–12 months: 1.6 g kg−1 day−1; 1–10 years: 1.3 g kg−1 day−1; 11–16 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 0.4–1.2 g kg−1 day−1 (40–60 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.
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Document Type: Research Article

Affiliations: 1: Royal Hospital for Sick Children Glasgow, Glasgow Royal Infirmary, Glasgow, UK 2: Addenbrookes Hospital, Cambridge, UK 3: Birmingham Children’s Hospital, Birmingham, UK 4: Royal Hospital for Sick Children Edinburgh, Edinburgh, UK 5: Great Ormond Street Hospital for Children NHS Trust, London, UK 6: Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK 7: Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK 8: United Hospitals Bristol NHS Foundation Trust, Bristol, UK 9: Sheffield Children’s NHS Foundation Trust, Sheffield, UK 10: Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK 11: University Hospitals, Birmingham, UK 12: Alder Hey Children’s Hospital NHS Foundation Trust, Liverpool, UK 13: Royal Belfast Hospital for Sick Children’s/Victoria Hospital, Belfast, UK 14: Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK 15: Bradford Teaching Hospital NHS Trust, Bradford, UK

Publication date: 2012-08-01

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