| Literature DB >> 15243986 |
T Rohininath1, D J Costello, T Lynch, A Monavari, M Tuchman, E P Treacy.
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.Entities:
Mesh：
Year: 2004 PMID： 15243986 DOI： 10.1023/b:boli.0000028840.97261.c6
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982