Name of the Procedure:

Acylcarnitines; quantitative, each specimen

Summary

An acylcarnitine quantitative test measures specific types of acylcarnitines in a blood sample to help diagnose metabolic disorders. Acylcarnitines are compounds formed when fatty acids undergo metabolism.

Purpose

This test helps detect disorders in fatty acid metabolism and certain inherited metabolic disorders. It provides information necessary to diagnose conditions like medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other fatty acid oxidation disorders.

Indications

This procedure is indicated for:

• Newborn screening for metabolic disorders.
• Individuals with symptoms like muscle weakness, lethargy, hypoglycemia, or developmental delays.
• Family history of metabolic disorders.
• Unexplained episodes of illness triggered by fasting or illnesses.

Preparation

• Fasting may be required for a specified period before the test.
• Patients should inform their healthcare provider about any medications or supplements they are taking.

Procedure Description

1. A healthcare professional will clean the puncture site on the patient's skin.
2. A needle is inserted into a vein, typically in the arm, to draw a blood sample.
3. The blood sample is then collected in a vial or test tube.
4. The sample is sent to a laboratory where it’s analyzed for specific acylcarnitine levels.
5. The procedure typically does not require anesthesia or sedation.

Duration

The blood draw itself takes only a few minutes.

Setting

The procedure is typically performed in a hospital, outpatient clinic, or a specialized laboratory.

Personnel

• Phlebotomist or a trained healthcare professional for drawing blood.
• Laboratory technicians or specialists for analyzing the sample.

Risks and Complications

• Minor discomfort or pain at the needle insertion site.
• Bruising or bleeding.
• Rarely, infection at the puncture site.

Benefits

Early and accurate diagnosis of metabolic disorders allows for timely intervention and management, which may include dietary modifications or medications. Early treatment can prevent severe complications and improve the quality of life.

Recovery

• Minimal recovery time; patients can usually resume normal activities immediately.
• Care involves monitoring the puncture site for any signs of infection or complications.

Alternatives

• Tandem mass spectrometry (MS/MS) screening that can detect various metabolites, including acylcarnitines.
• Genetic testing for specific enzyme deficiencies.
• Urine organic acid tests can sometimes be used for additional information.

Patient Experience

• The procedure involves a simple blood draw, which may cause brief pain or discomfort.
• Most patients feel back to normal shortly after the blood sample is taken.
• Pain management measures such as applying pressure to the site post-draw are usually sufficient for comfort.