Carnitine Palmitoyltransferase II Deficiency

Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.

The adult myopathic form of this disease was first characterized in 1973 by DiMauro and DiMauro. It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults. CPT II deficiency is also the most frequent cause of hereditary myoglobinuria. Symptoms of this disease are commonly provoked by prolonged exercise or periods without food.

Read more about Carnitine Palmitoyltransferase II DeficiencyOverview, Clinical Presentation, Diagnosis, Treatment, Molecular Genetics, Related Clinical Trials

Other articles related to "carnitine palmitoyltransferase, carnitine, carnitine palmitoyltransferase ii deficiency, deficiency, ii":

Carnitine Palmitoyltransferase I - Biological Function
... The carnitine palmitoyltransferase system is an essential step in the beta-oxidation of long chain fatty acids ... Carnitine palmitoyltransferase I is the first component and rate-limiting step of the carnitine palmitoyltransferase system, catalyzing the transfer of ... A translocase then shuttles the acyl carnitine across the inner mitochondrial membrane where it is converted back into palmitoyl-CoA ...
List Of EC Numbers (EC 2) - EC 2.3: Acyltransferases - EC 2.3.1: Transferring Groups Other Than Amino-acyl Groups
... EC 2.3.1.6 choline O-acetyltransferase EC 2.3.1.7 carnitine O-acetyltransferase EC 2.3.1.8 phosphate acetyltransferase EC 2.3.1.9 acetyl-CoA C-acetyltransferase EC 2 ...
Carnitine Palmitoyltransferase II Deficiency - Related Clinical Trials
2 ... Medium-chain fatty acids with odd number of carbons Clinical Trials Link 3 ...
Carnitine-acylcarnitine Translocase - Clinical Significance
... A disorder is associated with carnitine-acylcarnitine translocase deficiency ... This disorder prevents the shuttle-like action of carnitine from assisting fatty acids across the mitochondrial membrane and therefore there is decreased fatty acid catabolism ... transporter (SLC32A1) (33) Acetyl-CoA transporter (SLC33A1) (34) type II Na+-phosphate cotransporter (SLC34A1, SLC34A2, SLC34A3) (35) nucleoside-sugar transporter ...

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