TY - ABST
AU - Adam, S.
AU - Champion, H.
AU - Daly, A.
AU - Dawson, S.
AU - Dixon, M.
AU - Dunlop, C.
AU - Eardley, J.
AU - Evans, S.
AU - Ferguson, C.
AU - Jankowski, C.
AU - Lowry, S.
AU - MacDonald, A.
AU - Maritz, C.
AU - Micciche, A.
AU - Robertson, L.
AU - Stafford, J.
AU - Terry, A.
AU - Thom, R.
AU - van Wyk, K.
AU - Webster, D.
AU - White, F. J.
AU - Wildgoose, J.
AU - on behalf of the British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Groupcr23
TI - Dietary management of urea cycle disorders: UK practice
JO - Journal of Human Nutrition & Dietetics
PY - 2012-08-01T00:00:00///
VL - 25
IS - 4
SP - 398
EP - 404
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 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 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.
UR - http://www.ingentaconnect.com/content/bsc/jhnd/2012/00000025/00000004/art00013
M3 - doi:10.1111/j.1365-277X.2012.01259.x
UR - http://dx.doi.org/10.1111/j.1365-277X.2012.01259.x