Plasma Acylcarnitine Profile

The Plasma Acylcarnitine Profile measures the levels of different acylcarnitine molecules in your blood. 

• To detect fatty acid oxidation disorders
• This test detects changes in acylcarnitine molecules that can indicate problems with how the body processes fats.
• It is used to screen for and diagnose fatty acid oxidation disorders, which are a group of genetic conditions that affect how your body breaks down fats to use for energy.
• It can also be used to monitor treatment effectiveness.

Your doctor may recommend this test if you have symptoms such as muscle pain, fatigue, seizures, or vomiting after eating high-fat foods.

This test is also recommended for newborn babies who

• Show symptoms of lethargy, weak muscles, or an enlarged liver.
• Have a family history of fatty acid oxidation disorders.

Elevated or decreased acylcarnitine levels may indicate specific types of fatty acid oxidation disorders. 

During this test, a lab technician will draw a small sample of your blood from a vein in your arm. You may feel a slight pinch or stinging sensation during the procedure. 

There is no special preparation required for this test. However, your doctor may request that you fast for several hours before the test to obtain an accurate result. Please reach out to your healthcare provider for any specific requirements.

Your doctor may order additional blood or urine tests to confirm the diagnosis of a fatty acid oxidation disorder. Genetic testing may also be used to identify the specific genetic mutations responsible for the disorder.

Acylcarnitine profile or carnitine profiling

Fatty acid oxidation disorders are a group of genetic conditions that affect how your body breaks down fats for energy. These disorders can cause muscle pain, weakness, seizures, hypoglycemia, and liver damage if not diagnosed and treated promptly.