Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

Pediatrics. 1971 Oct;48(4):595-600.
No abstract available

MeSH terms

  • Amino Acids / blood
  • Ammonia / blood*
  • Animals
  • Autopsy
  • Clinical Enzyme Tests
  • Culture Techniques
  • Female
  • Humans
  • Infant
  • Liver / enzymology
  • Liver / pathology
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / metabolism
  • Metabolism, Inborn Errors / urine
  • Mutation
  • Ornithine / metabolism
  • Ornithine Carbamoyltransferase* / metabolism
  • Orotic Acid / urine
  • Phosphotransferases / metabolism
  • Rats
  • Threonine / metabolism
  • Urea / biosynthesis

Substances

  • Amino Acids
  • Threonine
  • Orotic Acid
  • Ammonia
  • Urea
  • Ornithine
  • Ornithine Carbamoyltransferase
  • Phosphotransferases