US EPA

7544794 

Journal Article 

Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis 

Brusilow, SW 

1984 

Yes 

Journal of Clinical Investigation
ISSN: 0021-9738
EISSN: 1558-8238 

74 

6 

2144-2148 

English 

6511918 

10.1172/JCI111640 

The role of arginine as an essential amino acid was evaluated in four children with one of the deficiencies of carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, and argininosuccinase. Within 15-68 h after arginine deprivation nitrogen accumulated as ammonium or glutamine or both, but glutamine was quantitatively the largest nitrogen accumulation product. Concomitantly plasma and urinary urea levels decreased. Resumption of arginine intake (or citrulline) in the case of ornithine transcarbamylase deficiency) promptly led to correction of the hyperammonemia, hyperglutaminemia and hypoargininemia. Ornithine was an unsatisfactory substitute for arginine. Arginine deprivation did not interfere with carbamyl phosphate synthesis as manifested by orotic aciduria. It is concluded that arginine is an indispensable amino acid for children with inborn errors of ureagenesis and its absence results in the rapid onset of symptomatic hyperammonemia. 

ammonia; arginine; argininosuccinate lyase; argininosuccinate synthase; carbamate kinase; citrulline; glutamine; ornithine carbamoyltransferase; case report; diagnosis; etiology; heredity; human; hyperammonemia; inborn error of metabolism; priority journal; urea cycle