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What are the risks for maple syrup urine disease?

1 doctor weighed in
Dr. Cayce Jehaimi
Pediatrics - Endocrinology

In brief: Brain damage

Maple syrup urine disease (msud) is caused by a gene defect.
Persons with this condition cannot break down the Amino Acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood. In the most severe form, msud can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). Some types of msud are mild however.

In brief: Brain damage

Maple syrup urine disease (msud) is caused by a gene defect.
Persons with this condition cannot break down the Amino Acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood. In the most severe form, msud can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). Some types of msud are mild however.
Dr. Cayce Jehaimi
Dr. Cayce Jehaimi
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