Description
Why It’s Done
This test is ordered to:
• Diagnose inborn errors of metabolism such as:
o Phenylketonuria (PKU)
o Maple syrup urine disease
o Homocystinuria
• Investigate unexplained symptoms like developmental delays, seizures, or growth problems
• Monitor patients with known metabolic or nutritional disorders
• Evaluate amino acid imbalances due to liver or kidney disease
Preparation for the Test
• Fasting: Typically, fasting for 8–12 hours before the test is recommended to avoid dietary influence on amino acid levels.
• Medications: Inform your healthcare provider about any medications or supplements, as some may affect test results.
• Avoid strenuous exercise before the test, as it can alter amino acid levels.
• A blood sample is collected, usually from a vein in the arm.
