Acute Renal Failure Requiring Renal Replacement Therapy Due to McArdle Disease

Abstract

McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis. It is characterized by glycogen phosphorilase deficiency and is generally inherited autosomal recessively. Altough most of the inherited disorders of enzyme defects in glycogen storage present in childhood, McArdle disease has separate adult-onset forms and the age of onset of the symptoms depends on enzyme activity levels. It mainly presents with progressive muscle weakness and cramps after an exercise and becomes symptomatic in the 2nd or 3rd decades of life. Rhabdomyolysis after intense exercise has been reported. Here we report a 32-year-old male who presented to the emergency room with paralysis, severe bodily pain and hematuria after intense exercise. He was diagnosed with acute renal failure due to rhabdomyolysis. Hemodialysis was finally required despite all other approaches. Muscle biopsy revealed intermyofibrillary and subsarcolemmal glycogen deposits, a marker of Glycogen Storage Disorder Type V (McArdle Disease). The renal transplantation neccessity disappeared as the function tests returned to normal values during follow up. To conclude, we would like to emphasize McArdle disease as a rare cause of acute renal failure due to rhabdomyolysis.