Description
Why It’s Done
This test is usually ordered to:
• Screen for inborn errors of metabolism (genetic disorders affecting amino acid metabolism), such as:
o Phenylketonuria (PKU)
o Maple syrup urine disease
o Cystinuria
• Investigate unexplained symptoms like:
o Developmental delays
o Failure to thrive in infants
o Neurological symptoms
• Detect kidney tubular disorders where amino acid reabsorption is impaired
• Monitor patients with known metabolic disorders
Preparation for the Test
• Diet: Follow any specific dietary instructions given by your healthcare provider; sometimes protein intake may be regulated before testing.
• Hydration: Drink plenty of fluids unless instructed otherwise.
• Medications: Inform your healthcare provider about all medications and supplements, as some can affect amino acid excretion.
• Urine Collection: A random urine sample is usually sufficient, but sometimes a 24-hour urine collection may be requested.
• Avoid contamination by collecting a clean-catch urine sample in a sterile container.
