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Licensed Unlicensed Requires Authentication Published by De Gruyter January 13, 2017

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

  • Engin Melek EMAIL logo , Fatma Derya Bulut , Bahriye Atmış , Berna Şeker Yılmaz , Aysun Karabay Bayazıt and Neslihan Önenli Mungan


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.

Corresponding author: Engin Melek, Assistant Professor, Faculty of Medicine, Department of Pediatric Nephrology, Cukurova University, 01330, Balcalı, Adana, Turkey, Phone: +90 322 3386084, Fax: +90 322 3386945

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2016-8-14
Accepted: 2016-11-17
Published Online: 2017-1-13
Published in Print: 2017-2-1

©2017 Walter de Gruyter GmbH, Berlin/Boston

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