What Is Maple Syrup Urine Disease?

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By becky
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Reviewed: Dr. Gromatzky
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8. What Is Late-Onset MSUD?

Although late-onset maple syrup urine disease is not an official diagnostic subcategory, it applies to anyone who is diagnosed later in life. When enzyme activity is sufficient enough to not cause symptoms in infancy but become evident in times of stress or illness, it can possibly lead to a late-onset diagnosis.

A late-onset diagnosis usually falls under the category of intermittent MSUD since the symptoms only arise during times of metabolic distress. Most other types of this disorder have enzyme activity consistently low enough to cause symptoms at all times without treatment.

Maple Syrup Urine Disease

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