Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
نویسندگان
چکیده
منابع مشابه
Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.
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 an...
متن کاملCarnitine palmitoyltransferase II deficiency
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 tech...
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BACKGROUND Carnitine Palmitoyl Transferase 1 (CPT1) is the rate-limiting enzyme governing long-chain fatty acid entry into mitochondria. CPT1 inhibitors have been developed and exhibited beneficial effects against type II diabetes in short-term preclinical animal studies. However, the long-term effects of treatment remain unclear and potential non-specific effects of these CPT1 inhibitors hampe...
متن کاملCrystal structure of rat carnitine palmitoyltransferase II (CPT-II).
Carnitine palmitoyltransferase II (CPT-II) has a crucial role in the beta-oxidation of long-chain fatty acids in mitochondria. We report here the crystal structure of rat CPT-II at 1.9A resolution. The overall structure shares strong similarity to those of short- and medium-chain carnitine acyltransferases, although detailed structural differences in the active site region have a significant im...
متن کاملMacro creatine kinase in a case of carnitine palmitoyltransferase deficiency.
A stout man was admitted to the hospital with acute rhabdomyolysis associated with macro creatine kinase (macro-CK, EC 2.7.3.2). This anomaly of CK was detected by gel electrophoresis as an atypical band between CK-MB and CK-MM, classified according to Stein's criteria (Clin Chem 1982; 28:19-24) as type 1, and identified by immunofixation electrophoresis as containing CK isoenzymes MM and MB an...
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ژورنال
عنوان ژورنال: Neurology
سال: 2008
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000318283.42961.e9