Maple syrup urine disease (MSUD)

Maple syrup urine disease (MSUD) is a rare inherited disorder which causes the body's inability to metabolize three amino acids (leucine, isoleucine, valine). MSUD may be characterized first by urine smelling sweet or like maple sugar, poor appetite, fussiness, vomiting and lethargy. Infants who are treated after symptoms begin may have irreversible mental retardation, and, when untreated, coma and ultimately death may result as soon as two weeks after birth. Treatment may be managed by placing the baby on a special life-long diet.

Maple Syrup Urine Disease Family Support Group
1854 Agape Court, E. Earl, PA 17519
717-445-5961

http://www.msud-support.org/

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About this information: These definitions were provided by the Centers for Disease Control, the National Institutes for Health and other government health agencies. This information is for educational purposes only. If you are concerned about your health or your child's health, please consult your family's health care provider immediately. This information is not a substitute for personal medical attention, diagnosis or treatment.