Article
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
Molecular genetics and metabolism - 1 Jan 2000
Hsu B Y, Iacobazzi V, Wang Z, Harvie H, Chalmers R A, Saudubray J M, Palmieri F, Ganguly A, Stanley C A
Abstract excerpt
This report describes three infants with genetic defects of carnitine-acylcarnitine translocase (CACT), an inner mitochondrial membrane carrier that is essential for long-chain fatty acid oxidation. Two of the patients were of European and Chinese origin; the third was from consanguineous Turkish parents. CACT activity was totally deficient in cultured skin fibroblasts from all three patients. Patient 1 was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.