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Maple Syrup Urine Disorders (Neonatal Screening)

₹400.00

15 minutes
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The Maple Syrup Urine Disorder (MSUD) neonatal screening test is a blood test performed shortly after birth to detect MSUD—a rare but serious inherited metabolic disorder. In MSUD, the body is unable to break down certain amino acids (leucine, isoleucine, and valine) due to a defective enzyme complex. As a result, harmful levels of these substances build up in the blood and urine.

The condition is named after the characteristic sweet-smelling urine, similar to maple syrup, seen in affected infants.

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    Description

    Why It’s Done:
    This test is part of routine newborn screening in many countries and is done to:
    • Detect MSUD early, often before symptoms appear
    • Prevent severe complications, such as brain damage, seizures, coma, or death
    • Initiate early dietary management and treatment to avoid long-term health issues
    Symptoms of untreated MSUD may include:
    • Poor feeding
    • Vomiting
    • Lethargy
    • Developmental delay
    • Maple syrup-like odor in urine

    Preparation:
    • No special preparation is needed from the parents.
    • The test is typically done between 24 and 72 hours after birth.
    • A few drops of blood are collected from the newborn’s heel and placed on a special filter paper for laboratory analysis.

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