Carnitine is essential to transfer long-chain fatty acids into the mitochondria for beta-oxidation and energy production.
Carnitine deficiency is a metabolic disorder in which carnitine concentrations in plasma and tissues are less than the levels required for normal function of the body.
Carnitine deficiency may be primary or secondary.
The symptoms may not be clinically significant until carnitine levels are less than 10-20% of normal.
Primary carnitine deficiency is caused by a genetically determined deficiency in the plasma membrane carnitine transporter.
Secondary carnitine deficiency is caused by other metabolic disorders likefatty acid oxidation disorders, organic acidemias or drug induced. Carnitine deficiencymay be secondary to the formation of acylcarnitine and the inhibition of carnitine transport in renal cells by acylcarnitines.
This section describes what we know about carnitine cycle disorders, including their role in primary and secondary carnitine deficiencies.
It includes extensive monographs, educational videos and slide presentations edited by international scientific experts.
