ISSN:
1432-1076
Keywords:
Orotic acid
;
Urea cycle
;
Metabolism, inborn errors
;
Hyperammonemia
;
Organic aciduria
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Orotic acid excretion in urine is increased in ornithine transcarbamylase deficiency, citrullinemia and argininemia; it is barely increased in argininosuccinic aciduria and normal in carbamylphosphate synthetase deficiency and in hyperammonemia due to organic aciduria. The determination of orotic acid excretion is useful in differentiating the causes of hyperammonemia and reduces the need for enzymatic assays on tissue biopsies for decisions on therapy. The data indicate that orotic acid does not merely reflect ammonia concentration in plasma, but depends on carbamylphosphate concentration. Arginine could play a key role in the regulation of ammonia detoxication.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01846026
