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What should I know about Maple Syrup Urine Disease (MSUD)?
Below are some frequently asked
questions. If the information contained on this page does not answer all
of your questions or you would just simply like more information, please check
out the Clinical Description & Related
Links pages or contact us with your specific question.
(click
here for printer friendly version of this information in pdf format)
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Q. What is MSUD? |
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A.
Maple syrup urine disease (MSUD) is a treatable disorder that affects the way
the body processes protein.
Children with MSUD cannot use parts of the protein called branched-chain
amino acids.
If left untreated, branched-chain amino acids build up in the bloodstream
and cause brain damage. |
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Q. Is there only one form of MSUD? |
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A.
No. There are four different
classifications used to describe MSUD: classic, intermediate, intermittent, and
thiamin-responsive. These classifications are based on the amount and type of
enzyme activity present, which can vary even within each classification.
In the most common form, classic MSUD, there is little or no enzyme
activity present. Infants with
classic MSUD will often exhibit clinical symptoms within the first several days
of life. |
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Q. What is the treatment for MSUD? |
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A.
Maple syrup urine disease is treated with a special diet that is low in
branched-chain amino acids. To
prevent mental retardation, treatment must begin shortly after birth.
Since protein is essential for normal growth and development, the child
must continue on a special formula that provides protein and essential
nutrients, but contains little or no branched-chain amino acids.
People with MSUD require specialized treatment through a clinic with
experience in treating this disorder. |
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Q. Why would a child have MSUD? |
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A.
Maple syrup urine disease is an inherited disorder. It results when a baby receives a double-dose of a specific
non-working gene involved in breaking down branched-chain amino acids (one from
each parent). For more information
about this, contact your health care provider or a genetic counselor. |
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Q. How common is MSUD? |
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A.
About one in every 200,000 babies in the United States is born with MSUD. |
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