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  2. Carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase deficiency

Definition:

Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.

Biomedical Dictionary

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