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Fatal presentation of ornithine transcarbamylase deficiency in a 62‐year‐old man and family studies
Author(s) -
Rohininath T.,
Costello D. J.,
Lynch T.,
Monavari A.,
Tuchman M.,
Treacy E. P.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028840.97261.c6
Subject(s) - ornithine transcarbamylase deficiency , proband , ornithine transcarbamylase , presentation (obstetrics) , enzyme deficiency , ornithine carbamoyltransferase , genetic heterogeneity , genetics , phenotype , mutation , biology , ornithine , endocrinology , medicine , enzyme , biochemistry , urea cycle , arginine , gene , amino acid , surgery
Summary: 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.