Acylcarnitine Profile, Plasma
An acylcarnitine profile is a blood test used to check for the presence of genetic disorders related to fatty acid oxidation and several organic acidurieas. If a patient is at risk of having these disorders or is suspected of having it, the doctor may order the test.
Carnitine is a generic name given to a number of compounds formed primarily from the building blocks of proteins (amino acids) by the kidneys and liver which play an important role in converting fats into energy for cell function (metabolism). If the body is deficient in the enzymes that do this, (fatty acid oxidation disorders), either as a “primary “ deficiency associated with genetic abnormalities or “secondary” carnitine deficiency, it can lead to increased amounts of acylcarnitine in the blood which may present with brain dysfunction, a weakened heart, confusion, weakness and other signs and symptoms. A biochemical genetic test for acylcarnitine is used to screen for these disorders.
Acylcarnitine profile (ACP) analysis is performed for the biochemical screening of disorders of fatty acid oxidation (FAO) and organic acid metabolism. In some cases, ACP results are diagnostic for a specific disorder, while in other cases, further testing is needed to establish a precise diagnosis. The conditions revealed by acylcarnitine analysis have in common the accumulation of C2-C18 acyl-CoA species, which are substrates for one of several carnitine acyl-CoA transferases expressed in different intracellular compartments. The resulting acylcarnitine species are measured in the following clinical situations:
- Evaluation of symptomatic patients
- Evaluation of asymptomatic (at-risk) siblings of known patients
- Newborn screening and follow-up testing
- Prenatal diagnosis
- Postmortem screening