Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet

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 mumol/1 to 0.13-0.30 mumol/1 (normal range 0.02-0.15). Increased concentrations of arginine in the cerebrospinal fluid (CSF) fell from 0.069-0.098 mumol/l to 0.040-0.056 mumol/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.