CACT is located in the inner mitochondrial membrane and operates a carnitine/acylcarnitine exchange across this membrane. (orpha.net)
Subsequently, acyl-carnitines are translocated across the inner mitochondrial membrane by cartinine acyl translocase. (biomedcentral.com)
Deficiency6
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. (orpha.net)
The neonatal and severe infantile forms of carnitine palmitoyl transferase II (CPT II) deficiency (see this term) need to be excluded as they have an identical acylcarnitine profile to CACT. (orpha.net)
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic 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. (wikipedia.org)
The three main types of carnitine palmitoyltransferase II deficiency classified on the basis of tissue-specific symptomatology and age of onset. (wikipedia.org)
Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. (bvsalud.org)
Plasma acylcarnitine levels were low, but within a range not clinically linked to carnitine deficiency. (bvsalud.org)
Acyl2
Blood acylcarnitine analysis shows a very high acyl fraction with marked increase in C16, C18, and C18:1 species. (orpha.net)
Fatty acids, which are often found in chains as CoA-esters, are first transported across the outer mitochondrial membrane by palmitoyl transferase I, resulting in translocation to the intermembrane space and transformation into an acyl-carnitine form. (biomedcentral.com)
Protein1
CPT II shares structural elements with other members of the carnitine acyltransferase protein family. (wikipedia.org)
Long2
It is an essential component of the carnitine cycle that regulates the transport of long chain fatty acids into the mitochondria where fatty acid oxidation takes place. (orpha.net)
Secondary outcomes included plasma acylcarnitine profiles, functional measures (muscle strength, long jump, handwriting speed, 6-minute-walk test [6MWT]), and parent-reported questionnaires (PedsQL™, CBCL/6-18). (bvsalud.org)