Carnitine Palmitoyl Transferase II Deficiency in an Adolescent Presenting With Rhabdomyolysis and Acute Renal Failure

Topcu Y., Bayram E., KARAOĞLU P., YİŞ U., Bayram M., Kurul S. H.

PEDIATRIC EMERGENCY CARE, vol.30, no.5, pp.343-344, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1097/pec.0000000000000127
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.343-344
  • Keywords: carnitine palmitoyl transferase II deficiency, rhabdomyolysis, acute renal failure, adolescent, MUTATION
  • Dokuz Eylül University Affiliated: Yes


The most common cause of recurrent rhabdomyolysis in childhood is inherited metabolic disorders. Carnitine palmitoyl transferase II (CPT II) deficiency is a lipidosis and is a common cause of inherited recurrent myoglobinuria. The disease is inherited in autosomal recessive trait, and the clinical phenotype ranges from a severe and multisystemic infantile form to a milder muscle form, which is characterized with rhabdomyolysis and myoglobinuria. Exercise, infection, fasting, and cold are the most important triggering factors of rhabdomyolysis in CPT II deficiency. The severity of attacks is highly variable and some of these attacks may be complicated by acute renal failure. We report a case of a 13-year-old girl with recurrent rhabdomyolysis due to CPT II deficiency whose last attack was complicated by acute renal failure.