Peer-Reviewed Journal Details
Mandatory Fields
Rohininath, T.,Costello, D. J.,Lynch, T.,Monavari, A.,Tuchman, M.,Treacy, E. P.;
2004
Journal of inherited metabolic disease
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies
Validated
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Optional Fields
27
22
285
288285
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.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.
0141-89550141-8955
://WOS:000221591600021://WOS:000221591600021
Grant Details