Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 12707442.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling techniques, a structure could be identified anchoring the protein in the membrane. Only one of the five mutations (Y479F) is located within this region.
Medical subject headings
- Carnitine O-Palmitoyltransferase
- Lipid Metabolism, Inborn Errors
- Myoglobinuria
- Rhabdomyolysis