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PMID: 6785520 Published · ppublish English Case Reports Comparative Study Journal Article

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

Journal of inherited metabolic disease ·Vol. 4 ·No. 1 ·1981-00-00 ·Pages 27-31

Webster DR, Simmonds HA, Barry DM, Becroft DM

Abstract

Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyl-transferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). Urinary clearances of these compounds were high, that of orotic acid indicating net secretion. Urinary uric acid clearance was also elevated, a finding attributed to the uricosuric effect of the orotic acid excreted concomitantly. The results in this child and her family are typical of OCT deficiency. They confirm considerable genetic heterogeneity in the biochemical as well as clinical expression in this defect.

MeSH Terms

Child Child, Preschool Female Humans Male Ornithine Carbamoyltransferase Deficiency Disease Purine-Pyrimidine Metabolism, Inborn Errors/metabolism Purines/metabolism Pyrimidines/metabolism Reference Values

Chemicals

Purines Pyrimidines

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Webster D R

Simmonds H A

Barry D M

Becroft D M

References (13)

13 references, click to expand

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Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1007/BF02263578

Published

1981-00-00

Pages

27-31

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1007/BF02263578 View journal details

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Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

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