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Maple syrup urine disease

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

MSUD

Prevention:

Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. Some states, such as Pennsylvania, screen all newborns for signs of MSUD.

If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease.

• Review Date: 5/2/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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