An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

J Inherit Metab Dis. 2006 Feb;29(1):179-81. doi: 10.1007/s10545-006-0193-3.

Abstract

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acids / blood
  • Child, Preschool
  • Diagnosis, Differential
  • Fatal Outcome
  • Humans
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease* / blood
  • Ornithine Carbamoyltransferase Deficiency Disease* / diagnosis*
  • Orotic Acid / urine

Substances

  • Amino Acids
  • Orotic Acid