title: Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.
abstract: 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.
authors.affiliation: National Centre for Inherited Metabolic Diseases, The Children's University Hospital, Dublin, Ireland.
authors.forename: T
authors.initials: T
authors.lastname: Rohininath
authors.forename: D J
authors.initials: DJ
authors.lastname: Costello
authors.forename: T
authors.initials: T
authors.lastname: Lynch
authors.forename: A
authors.initials: A
authors.lastname: Monavari
authors.forename: M
authors.initials: M
authors.lastname: Tuchman
authors.forename: E P
authors.initials: EP
authors.lastname: Treacy
mesh_terms: D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation