Article
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Journal of inherited metabolic disease - 1 Jan 2003
Olpin S E, Afifi A, Clark S, Manning N J, Bonham J R, Dalton A, Leonard J V, Land J M, Andresen B S, Morris A A, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt R J
Abstract excerpt
Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients representing the full clinical spectrum of disease. Severe and intermediate phenotypes show a clear correlation with...
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