Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis

Abstract

Presentation A 20 year old female attended the Emergency Department by ambulance following a collapse at a concert. On arrival she was complaining of generalised muscular pain. She had not eaten for over 12 hours and had been dancing for approximately 6 hours. The patient was known to have Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). She had a normal exam, and normal vital signs. Diagnosis A diagnosis of rhabdomyolysis was made after her creatinine kinase (CK) was found to be >100000 units/litre (Normal range < 170U/L). Her urine was dark brown with urinalysis positive for blood. Treatment The patient was admitted to the high dependency unit, where she was treated with intravenous fluids. Her urine output and renal function were closely monitored. She made a full recovery and was discharged home four days later. Conclusion (VLCAD) is an inherited, autosomal recessive, metabolic disorder caused by mutations in the ACADVL gene. Management includes treatment of manifestation, primary prevention of manifestation, and prevention of secondary complications.