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Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet
Author(s) -
Cederbaum S. D.,
Moedjono S. J.,
Shaw K. N. F.,
Carter M.,
Naylor E.,
Walzer M.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800000
Subject(s) - medicine , arginine , endocrinology , chemistry , arginase , aminoaciduria , orotic acid , amino acid , biochemistry
Abstract A brother and sister aged 11 and 17 years have been reported previously to have hyperargininaemia and arginase deficiency: they were treated with a semi‐synthetic diet consisting of fat, carbohydrate, minerals, vitamins and essential amino acids in amounts equivalent to 0.55–0.65 g protein kg −1 day −1 for 2 years. Plasma arginine levels fell from 0.50–0.90 µmol/l to 0.13–0.30 µmol/l (normal range 0.02–0.15). Increased concentrations of arginine in the cerebrospinal fluid (CSF) fell from 0.069–0.098 µmol/l to 0.040–0.056 µmol/l (normal mean ± SD=0.020±0.006). Dibasic aminoaciduria returned to normal within 1 week. Substitution of the keto‐acid analogues of five essential amino acids in the formula lowered arginine concentrations further, but proved to be unpalatable. Urinary concentrations of orotic acid, uridine and uracil fell toward normal but remained increased, even when the plasma ammonia concentration was measured as normal. Both patients showed a stable clinical improvement.