Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure.

Abstract:

: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.

journal_name

Pediatr Emerg Care

journal_title

Pediatric emergency care

authors

Topçu Y,Bayram E,Karaoğlu P,Yiş U,Bayram M,Kurul SH

doi

10.1097/PEC.0000000000000127

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

343-4

issue

5

eissn

0749-5161

issn

1535-1815

pii

00006565-201405000-00010

journal_volume

30

pub_type

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