Carnitine palmitoyltransferase I deficiency | |
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Other names | CPT-I, CPT1 |
Carnitine |
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids(LCFA) into energy, particularly during periods without food.[1] It is caused by a mutation in CPT1A on chromosome 11.[citation needed]
Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.[citation needed]