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Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

Authors :
Bachmann, C.
Colombo, J. P.
Source :
European Journal of Pediatrics; August 1980, Vol. 134 Issue: 2 p109-113, 5p
Publication Year :
1980

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.

Details

Language :
English
ISSN :
03406199 and 14321076
Volume :
134
Issue :
2
Database :
Supplemental Index
Journal :
European Journal of Pediatrics
Publication Type :
Periodical
Accession number :
ejs17007142
Full Text :
https://doi.org/10.1007/BF01846026