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Carnitine palmitoyltransferase II deficiency (CPT-II) is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The adult myopathic form of this disease was first characterized in 1973 by DiMauro and DiMauro. It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults. CPT II deficiency is also the most frequent cause of hereditary myoglobinuria. Symptoms of this disease are commonly provoked by prolonged exercise or periods without food. ==Signs and symptoms== There are three main types of carnitine palmitoyltransferase II deficiency classified on the basis of tissue-specific symptomotology and age of onset:〔Bonnefont JP et al. (2004). Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Molec Aspects Med, 25(5-6): 495-520. PMID 15363638〕 * Mild to severe adult myopathic form * Severe infantile multisystemic form * Lethal neonatal form It should be noted that among the few people diagnosed with CPT2, some have unknown and/or novel mutations that place them outside these three categories while remaining positive for CPT2. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Carnitine palmitoyltransferase II deficiency」の詳細全文を読む スポンサード リンク
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