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Metabolic myopathies caused by disorders of lipid and purine metabolism

Basil T Darras, MD
Section Editor
Marc C Patterson, MD, FRACP
Deputy Editor
John F Dashe, MD, PhD


Patients with metabolic myopathies have underlying deficiencies of energy production in muscle due to a wide variety of defects. These include defects in lipid, glycogen, glucose, adenine nucleotide, and mitochondrial metabolism [1].

A discussion of the myopathies resulting from disorders of lipid metabolism (table 1) is presented in this review. These include:

Carnitine deficiency syndromes

Fatty acid transport defects

Defects of beta-oxidation enzymes

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Literature review current through: Nov 2017. | This topic last updated: Mar 23, 2016.
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