Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.

Abstract excerpt

Carnitine palmitoyltransferase-1A (CPT-1A) deficiency is a defect of fatty acid metabolism that presents as an autosomal recessive inheritance. Carnitine palmitoyltransferase-1A is the rate-limiting enzyme that allows the body to process fats to provide energy during times of fasting and illness. Patients usually present between birth and 18 months of age following an illness with various symptoms including...

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