Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

ABSTRACT:

Background

Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis.

Methods

CPT II enzyme assay, DNA mutation analysis, quantitative analysis of acylcarnitines in blood and cultured fibroblasts, urinary organic acids, the standardized 36-item Short-Form Health Status survey (SF-36) version 2, and bioelectric impedance for body fat composition. Diet treatment with triheptanoin at 30% to 35% of total daily caloric intake was used for all patients.

Results

Seven patients with CPT II deficiency were studied from 7 to 61 months on the triheptanoin (anap

SUBMITTER: Roe CR 

PROVIDER: S-EPMC2676979 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature