Abstract
We report a patient with Type Ia glycogen storage disease complicated with rhabdomyolysis. This 47-year-old man developed cardiomegaly, hypertension and hepatorenal dysfunction and was diagnosed with Type Ia glycogen storage disease in 1984. His parents were married consanguineously, and his brother demonstrated the same disease. Complaining of general fatigue for 2 days, he was admitted to our hospital on December 25, 1996, and hemodialysis was performed immediately because of renal failure with hyperkalemia. On December 27, he was diagnosed with rhabdomyolysis based on laboratory findings; i.e., marked elevation of serum CPK, GOT, GPT, LDH, and myoglobin levels. Therefore continuous hemodiafiltration (CHDF) was performed. Anticoagulant therapy for disseminated intravascular coagulation syndrome (DIC) and absorption therapy for hyperbilirubinemia were initiated. The patient responded to these treatments. Sequence analysis of exon 5 of the glucose-6-phosphatase gene revealed a homozygous mutation of G 727 T. Rhabdomyolysis due to Type Ia glycogen storage disease has been reported only rarely. Lactic acidosis exacerbated by the underlying disease may have led to rhabdomyolysis in this patient.
