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McArdle's disease: a clinical review and case report.

Tennessee medicine : journal of the Tennessee Medical Association (2013-11-29)
Bradley R Keel, Michael Brit
ABSTRACT

McArdle's Disease is a rare glycogen disease involving deficiency in muscle phosphorylase. This deficiency can lead to rhabdomyolysis and subsequently renal failure. McArdle's Disease has a similar presentation as several other metabolic myopathies with exercise-induced fatigue, myalgias, weakness or unexplained rhabdomyolysis. Suspicion should be raised in the presence of unexplained symptoms, and muscle biopsy can be done to confirm the diagnosis.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Phosphorylase b from rabbit muscle, lyophilized powder, ≥20 units/mg protein, 2× crystallization
Sigma-Aldrich
Phosphorylase b from rabbit muscle, For use as a marker in SDS-PAGE