Glutaric Aciduri Type II, with Rhabdomyolysis and Acute Renal Failure Presentation in 10 Years Old Girl

Abstract

Introduction: Myopathy and rhabdomyolysis are not common in children and, if not detected and do not treated it will be associated with high mortality and morbidity rate. The causes of rhabdomyolysis include hypokalemia, trauma, viral myositis, poisoning, rheumatoid diseases, and metabolic myopathies. Rhabdomyolysis treatment includes rapid supportive care and treatment of the underlying disease leading to rhabdomyolysis. Case Presentation: 10-year-old girl with progressive muscle weakness was admitted in Pediatric Intensive Care Unit (PICU) with acute renal failure and respiratory failure. The laboratory results showed myoglobinuria, high CPK, LDH. The initial diagnosis was severe rhabdomyolysis. In addition to fluid therapy and diuretic, she was treated with carnitine and riboflavin with possible glutaric aciduria type II. The patient showed progressive improvement after a few days. Result of plasma acyl carnitine and urine organic acid analysis stablished the diagnosis of glutaric aciduria type II. Conclusion Late onset glutaric aciduria type II has been described as a rare but treatable cause of myopathy and rhabdomyolysis. Glutaric aciduria type II is an important differential diagnosis to consider in children and adults presenting with myopathy and rhabdomyolysis.

Keywords

• rhabdomyolysis
• myopathy
• acute renal failure
• glutaric aciduria type ii