Maple syrup urine disease

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Maple syrup urine disease

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. You may receive a call from your pediatrician stating that your baby has an abnormal blood test result for MSUD. A follow-up blood test for amino acid levels should be done right away to find out if your baby does have the disease.

Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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