Case Report

McArdle Disease Presenting as Acute Renal Failure

Authors: Jayasree Pillarisetti, MD, Awad Ahmed, DO


In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen storage disease V [GSDV]) in a patient who had sickle cell trait and bulimia. The disease went unrecognized despite several admissions to the hospital with increased creatine kinase and muscle myopathy until the patient’s initial presentation with acute renal failure.

Key Points

* Elevated creatine kinase levels should never be ignored, especially if the patient presents with repeated episodes.

* Sickle cell trait can cause creatine kinase elevation, although this only occurs at high altitudes or in circumstances of extreme exertion.

* Bulimia is a predisposing factor for rhabdomyolysis by causing electrolyte disturbances such as hypokalemia and hypomagnesemia.

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