Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Abstract excerpt

Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. Three distinct clinical entities have been described, the adult, the infantile, and the perinatal, all with an autosomal recessive inheritance pattern. The adult CPT II clinical phenotype is somewhat benign and requires additional external triggers such as...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Carnitine O-Palmitoyltransferase
• Share to Infant