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Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.

Abstract
Increased urinary levels of N-carbamoyl-beta-alanine, and also, on occasions, of N-carbamoylaspartate, were observed in patients with ornithine carbamoyl-transferase (EC 2.1.3.3) deficiency, argininosuccinate synthetase (EC 6.3.4.5) deficiency and argininosuccinate lyase (EC 4.3.2.1)deficiency, but not in a patient with carbamoylphosphate synthase deficiency. The relevance of these findings to the diagnosis of urea cycle defects is discussed.
AuthorsV G Oberholzer, T Palmer
JournalClinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 68 Issue 1 Pg. 73-8 (Apr 01 1976) ISSN: 0009-8981 [Print] Netherlands
PMID1261054 (Publication Type: Journal Article)
Chemical References
  • Carbamates
  • Aspartic Acid
  • Urea
  • Lyases
  • Ligases
  • Argininosuccinate Synthase
  • Alanine
Topics
  • Alanine (analogs & derivatives, urine)
  • Argininosuccinate Synthase (deficiency)
  • Argininosuccinic Aciduria
  • Aspartic Acid (analogs & derivatives, urine)
  • Carbamates (urine)
  • Child
  • Child, Preschool
  • Chromatography, Paper (methods)
  • Chromatography, Thin Layer (methods)
  • Humans
  • Infant, Newborn
  • Ligases (deficiency)
  • Lyases (deficiency)
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Urea (metabolism)

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