Severe hyperammonaemia in a previously healthy teenager

Ann Clin Biochem. 2000 Sep:37 ( Pt 5):727-8. doi: 10.1258/0004563001899807.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Humans
  • Hyperammonemia / diagnosis*
  • Hyperammonemia / etiology
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Point Mutation

Substances

  • Ornithine Carbamoyltransferase