Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations

J Gastroenterol. 2005 Jan;40(1):106-7. doi: 10.1007/s00535-004-1502-y.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Brain Diseases, Metabolic / etiology*
  • Brain Diseases, Metabolic / metabolism*
  • Codon / genetics
  • Exons / genetics
  • Female
  • Humans
  • Hyperammonemia / complications*
  • Hyperammonemia / genetics
  • Hyperammonemia / metabolism*
  • Mutation, Missense / genetics
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease* / complications*
  • Ornithine Carbamoyltransferase Deficiency Disease* / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease* / metabolism*
  • Sequence Analysis, DNA

Substances

  • Codon
  • Ornithine Carbamoyltransferase