Carnitine palmitoyltransferase II deficiency

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Web Resources for Carnitine palmitoyltransferase II deficiency

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Caused by a mutation in the gene encoding for carnitine palmitoyltransferase II, this is the commonest inherited disorder of mitochondrial long-chain fatty acid oxidation involving the carnitine shuttle. It classically presents in young adults with recurrent rhabdomyolysis triggered by exercise, fasting, or fever..

More severe rarer infantile forms exist with clinical presentations indistinguishable from say carnitine palmitoyltransferase I deficiency.