Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure.
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.
From the *Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Medical Faculty; and †Dr Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Montro, İzmir, Turkey.
Yasemin
Y
Topçu
Erhan
E
Bayram
Pakize
P
Karaoğlu
Uluç
U
Yiş
Meral
M
Bayram
Semra Hiz
SH
Kurul
D058186:Acute Kidney Injury / Q000209:etiology* / Q000628:therapy; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy; D012206:Rhabdomyolysis / Q000209:etiology* / Q000628:therapy
D002334:Carnitine O-Palmitoyltransferase