Article
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.
Neurology - 22 Jul 2008
Roe C R, Yang B-Z, Brunengraber H, Roe D S, Wallace M, Garritson B K
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.