An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

• Published in: Journal of pediatric endocrinology & metabolism : JPEM Vol. 30; no. 2; p. 237
• Main Authors: Melek, Engin, Bulut, Fatma Derya, Atmış, Bahriye, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Mungan, Neslihan Önenli
• Format: Journal Article
• Language: English
• Published: Germany 01-02-2017
• Subjects: Carnitine O-Palmitoyltransferase - deficiency; Child; Humans; Male; Metabolism, Inborn Errors - complications; Prognosis; Rhabdomyolysis - etiology; Rhabdomyolysis - urine
• ISSN: 2191-0251
• DOI: 10.1515/jpem-2016-0324

Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which leads to rhabdomyolysis and subsequent acute renal failure. The clinical phenotype varies from a severe infantile form to a milder muscle form. Here, we report a 9-year-old boy referred to our hospital for the investigation of hematuria with a 2-day history of dark urine and malaise. As no erythrocytes in the microscopic examination of the urine and hemoglobinuria were present, myoglobinuria due to rhabdomyolysis was the most probable cause of dark urine. After excluding the other causes of rhabdomyolysis, with the help of metabolic investigations, the patient was suspected to have CPT-II deficiency, the most common cause of metabolic rhabdomyolysis. Our aim in presenting this case is to emphasize considering rhabdomyolysis in the differential diagnosis of dark urine in order to prevent recurrent rhabdomyolysis and renal injury.