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Maple syrup urine disease

Definition:
Maple syrup in urine disease is an inheritable metabolic disease of amino acid metabolism characterized by acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup.

Alternative Names:
MSUD

Causes, incidence, and risk factors:

Maple syrup urine disease (MSUD) is caused by the inability to metabolize the so-called 'branched-chain' amino acids leucine, isoleucine, and valine. The disease is called MSUD because urine from affected people smells like maple syrup.

In the most severe form, MSUD causes severe acidosis during the first week of life. This is characterized by progressively poorer feeding, vomiting, seizures, lethargy, and finally coma.

Untreated infants may die in the first few weeks of life in severe forms of the disease. MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, MSUD results in mental retardation and bouts of acidosis precipitated by stresses such as ordinary infections.



Review Date: 8/6/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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