A suspected case of ornithine transcarbamylase deficiency in a cat

J Vet Med Sci. 2004 Jun;66(6):701-3. doi: 10.1292/jvms.66.701.

Abstract

An 18 month-old, intact female American Shorthair cat was presented for evaluation of stunted growth and postprandial depression. Fasting serum ammonia and serum bile acid concentrations were above reference ranges at 396 microg/dl and 6.5 micromol/ l and their postprandial concentrations were 785 microg/dl and 9.5 micromol/l, respectively. The initial tentative diagnosis of a portosystemic shunt was excluded by mesenteric portography and histopathology of the liver. The cat was then suspected of a urea cycle enzyme deficiency and its urine was analyzed by gas chromatography-mass spectrometry. A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil.

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood
  • Animals
  • Aspartate Aminotransferases / blood
  • Bile Acids and Salts / blood
  • Cat Diseases / diagnosis
  • Cat Diseases / enzymology*
  • Cats
  • Female
  • Gas Chromatography-Mass Spectrometry / veterinary
  • Hyperammonemia / veterinary
  • Ornithine Carbamoyltransferase / biosynthesis
  • Ornithine Carbamoyltransferase / metabolism
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / veterinary*
  • Orotic Acid / urine
  • Portasystemic Shunt, Surgical
  • Portography / veterinary
  • Postprandial Period
  • Uracil / urine
  • Urine / chemistry

Substances

  • Bile Acids and Salts
  • Uracil
  • Orotic Acid
  • Ornithine Carbamoyltransferase
  • Aspartate Aminotransferases
  • Alanine Transaminase