Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient

Digestion. 1997;58(1):83-6. doi: 10.1159/000201428.

Abstract

Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15 %. We report the clinical course of a heterozygous female patient and discuss the therapeutic options, including hemodialysis and continuous arteriovenous hemofiltration for reduction of ammonia levels as well as liver transplantation as a definitive therapy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ammonia / blood*
  • Fatal Outcome
  • Female
  • Hemofiltration
  • Heterozygote*
  • Humans
  • Liver Transplantation
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / therapy
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Pedigree
  • Renal Dialysis
  • Urea / metabolism*

Substances

  • Ammonia
  • Urea
  • Ornithine Carbamoyltransferase