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Clinical and Laboratory Findings Associated with a Primary Carnitine Disorder Affecting Skeletal Muscle

Specialty:

Endocrinology, Nutrition & Dermatology

Objective:

ICD-10:

Description:

Much of the body's carnitine is present in skeletal muscle, where it is involved in transmembrane transfer of long-chain fatty acids into mitochondria. The fatty acids undergo beta-oxidation within the mitochondria in order to generate energy for muscle contraction. A primary carnitine disorder affecting muscle results in a myopathy.

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