Acylcarnitine Profile, Quantitative (Plasma)
Elevations of specific acylcarnitine species occur in disorders of fatty acid beta-oxidation and in some disorders of organic acid metabolism. Examples of disorders identified by this test include medium-chain acyl-CoA dehydrogenase (MCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies, carnitine palmitoyltransferase II and carnitine/acylcarnitine translocase deficiencies, and propionic acidemia, methylmalonic acidemia, isovaleric acidemia and others.
