Carnitine palmitoyltransferase II deficiency information
Medical condition
Carnitine palmitoyltransferase II deficiency
Other names
CPT-II, CPT2
Carnitine
Specialty
Endocrinology
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, 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 disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic.
First characterized in 1973 by DiMauro and DiMauro the adult myopathic form of this disease is triggered by physically strenuous activities and/or extended periods without food and leads to immense muscle fatigue and pain.[1] It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults, primarily affecting males. CPT II deficiency is also the most frequent cause of hereditary myoglobinuria.
^Research, Institute of Medicine (US) Committee on Military Nutrition; Marriott, Bernadette M. (1994). The Role of Carnitine in Enhancing Physical Performance. National Academies Press (US).
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