Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report

Carnitine palmitoyltransferase II deficiency is a rare metabolic disorder affecting the mitochondrial oxidation of fatty acids. We present a case of the myopathic form in a 10-year-old Bahraini male following an initial presentation of exercise-induced rhabdomyolysis and transaminitis. There was no consanguinity or findings suggestive of an underlying inborn metabolic disorder. Tandem mass spectrometry on dried blood spots showed no abnormal acyl-carnitines profile. The condition improved with hyperhydration, high glucose intake, carnitine, and alkalinization. Genetic testing revealed a compound heterozygous pathogenic variant c.338C>T (p.Ser113Leu) and a variant of unknown significance c.729_731del (p.Leu244del). The patient was kept on a high carbohydrate and low-fat diet with medium chain triglycerides supplementation and advised to avoid long fasting periods and strenuous exercise. Within the four years of follow-up, he had three further attacks. Exercise-induced myalgia or rhabdomyolysis should raise the suspicion of inherited metabolic disorders. Metabolic investigations should be taken during the acute illness, and an acylcarnitines profile should preferably be performed in the serum.