Biochemical Genetic Test: Acylcarnitine

Also known as: acylcarnitine profile analysis, acylcarnitine profile test.

What is the biochemical test: acylcarnitine?

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.

What happens during the procedure?

Blood is drawn often shortly after birth as a screening test, or later from a vein in the usual way, with a urine sample and sent to a laboratory to test for levels of carnitine and acylcarnitine.

Is any special preparation needed?

An overnight fast is required before administering drawing the blood.

What are the risk factors?

There are no risks related to a biochemical genetic test for acylcarnitine, other than the minimal risks associated with drawing blood.

Reviewed by: Jack Wolfsdorf MD

This page was last updated on: 6/21/2019 1:29:10 AM