Description
Why It’s Done
This test is performed to:
• Detect inborn errors of metabolism, such as:
o Phenylketonuria (PKU)
o Maple syrup urine disease
o Cystinuria
• Diagnose kidney tubular disorders causing abnormal amino acid loss
• Investigate symptoms like developmental delays, neurological problems, or failure to thrive
• Monitor treatment in patients with known metabolic disorders
Preparation for the Test
• Diet: Follow any specific dietary instructions if provided by your healthcare provider.
• Hydration: Maintain normal hydration; no need for fasting.
• Medications: Inform your healthcare provider about any medications or supplements being taken, as some can influence amino acid excretion.
• Sample Collection: Collect a clean-catch random urine sample in a sterile container as instructed.
