Ornithine transcarbamylase variant in a male patient

J Inherit Metab Dis. 1987;10(3):272. doi: 10.1007/BF01800077.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acids / blood
  • Ammonia / blood
  • Citrulline / blood
  • Citrulline / therapeutic use
  • Dietary Proteins / administration & dosage
  • Genetic Variation*
  • Humans
  • Hydrogen-Ion Concentration
  • Infant
  • Liver / enzymology
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Orotic Acid / urine

Substances

  • Amino Acids
  • Dietary Proteins
  • Citrulline
  • Orotic Acid
  • Ammonia
  • Ornithine Carbamoyltransferase