carnitine
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Mitochondrial oxidation of long-chain fatty acids provides an important source of energy for the heart as well as for skeletal muscle during prolonged aerobic work and for hepatic ketogenesis during long-term fasting.
The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of beta-oxidation.
The carnitine shuttle consists of three enzymes (carnitine palmitoyltransferase 1 (CPT1A and CPT1B) , carnitine acylcarnitine translocase (SLC25A20), carnitine palmitoyl-transferase 2 (CPT2)) and a small, soluble molecule, carnitine, to transport fatty acids as their long-chain fatty acylcarnitine esters.
Pathology
systemic carnitine deficiency (MIM.212140)
carnitine palmitoyltransferase deficiency I (MIM.255120)
carnitine palmitoyltransferase II (CPT II) deficiency (MIM.255110)
- neonatal onset (MIM.608836)
- infantile
- late-onset (MIM.255110)
carnitine acetyltransferase deficiency (CRAT deficiency) (MIM.600184)
acyl-CoA oxidation