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What is Carnitine palmitoyltransferase I deficiency and explain in detail?
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11.Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy