Also known as: carnitine esters, acylcarnitine profile analysis.
What is an acylcarnitine profile?
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.
What happens during the procedure?
All that’s required for the test is a basic blood draw, typically from the arm but sometimes from another area of the body. Then the blood sample is taken to a laboratory for testing.
Is any special preparation needed?
Samples should be obtained prior to a scheduled meal or feeding; if clinically possible after an overnight fast. The most reliable results are obtained when the sample is collected during an acute illness, or after overnight fasting, if possible. Normal results however may not rule out some of the metabolic disorders although, it is possible to make the diagnosis when the patient is currently in stable metabolic condition.
Deliberate fast to provoke catabolism is not recommended.
What are the risk factors?
There are slights risks of infection, bleeding, bruising or swelling related to the blood draw.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: March 06, 2020 01:56 PM
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