Biochemical Genetic Test: Carnitine Plasma and Urine

Also known as:  carnitine blood test, carnitine urine test.

What is biochemical genetic test: carnitine plasma and urine?

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 test for carnitine and 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?

No special preparation is required for this test.


What are the risk factors?

Minimal risks associated with blood being drawn include infection, bleeding, bruising swelling, or damage to tissues nearby.


Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 10/29/2018 1:54:14 PM

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