First conceptualized as a mechanism for the mitochondrial transport of long‐chain fatty acids
in the early 1960s, the carnitine palmitoyltransferase (CPT) system has since come to be …

Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial
fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer …

Carnitine (L-3-hydroxy-4-N-trimethylaminobutyric acid) forms esters with a wide range of
acyl groups and functions to transport and excrete these groups. It is found in most cells at …

Expansions of an intronic GAA repeat reduce the expression of frataxin and cause
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is …

Very–long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in
mitochondrial fatty acid β-oxidation. VLCAD deficiency is clinically heterogenous, with three …

Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial
fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer …

Mutation analysis of metabolic disorders, such as the fatty acid oxidation defects, offers an
additional, and often superior, tool for specific diagnosis compared to traditional enzymatic …

Muscle carnitine palmitoyltransferase (CPT) II deficiency is an autosomal recessive disorder
of fatty acid oxidation characterized by attacks of myalgia and myoglobinuria. This review …

▪ Abstract Carnitine functions as a substrate for a family of enzymes, carnitine
acyltransferases, involved in acyl-coenzyme A metabolism and as a carrier for long-chain …

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 …