Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

J Inherit Metab Dis. 2004;27(2):285-8. doi: 10.1023/b:boli.0000028840.97261.c6.


Ornithine transcarbamylase deficiency (OTCD) resulting from deficiency of the mitochondrial enzyme OTC shows extensive phenotypic heterogeneity influenced by allelic heterogeneity and modifying environmental influences such as protein intake. We report the fatal late-onset presentation of OTCD in a 62-year-old man with the V337L mutation, a previous presentation in his grandson and negative clinical and biochemical screening of the proband's three daughters.

Publication types

  • Case Reports

MeSH terms

  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Pedigree
  • Point Mutation