Carnitne Palmitoyltransferase II Defciency, a Rare Cause of Rhabdomyolysis: A Case Report

Muscle weakness and rhabdomyolysis have a wide range of differential diagnosis. In many situations, they are induced by seizure, trauma, drugs, and toxins. They could also be due to inflammatory or metabolic myopathies. Identifying the exact cause is crucial and sometimes challenging.

A 23-year-old man was admitted to our hospital with muscle weakness, fatigue, dyspnea, and dark urine, all preceded by flu-like symptoms, myalgia, and fever. Due to reduced muscle strength, dark urine, elevated serum creatine kinase, and serum creatinine, he was diagnosed with rhabdomyolysis and acute kidney injury. Muscle biopsy was performed three years before for the patient, due to a history of similar episodes and exercise intolerance. Because of recurrent episodes of muscle weakness and rhabdomyolysis along with the negative muscle biopsy for inflammatory myopathies, we suspected metabolic myopathy as a cause. Therefore, metabolic screening was performed for the patient, and he was diagnosed with metabolic myopathy known as Carnitine Palmitoyltransferase II (CPT II) deficiency.

In patients with recurrent rhabdomyolysis, we should consider inherited myopathies, especially carnitine palmitoyltransferase II deficiency and glycogen storage disease type V (McArdle disease) as likely causes. CPT II deficiency is regarded as a preventable cause of recurrent rhabdomyolysis. Therefore, by early diagnosis of this disorder we could prevent recurrent episodes of rhabdomyolysis and ultimately avoid life threatening complications like acute kidney injury.