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Frequently Asked Questions

How is MSUD diagnosed?

The diagnosis is then confirmed by urine and blood testing. In some cases, especially in adolescents and adults, MSUD is diagnosed based on the symptoms, clinical exam, and the results of urine and blood testing. The results of genetic testing may help confirm the diagnosis.

How is maple syrup urine disease (MSUD) diagnosed?

Maple syrup urine disease (MSUD) is often diagnosed based on the results of a newborn screening test. The diagnosis is then confirmed by urine and blood testing.

What are the different types of MSUD?

The four main types of MSUD are: Classic: Classic maple syrup urine disease is the most severe type of MSUD. It is also the most common. Symptoms usually develop within the first three days of birth. Intermediate: This type of MSUD is less severe than classic MSUD. Symptoms typically appear in children between the ages of 5 months and 7 years.

What are the symptoms of MSUD?

All four types of MSUD have symptoms including: Urine, sweat, or earwax that smells like maple syrup or burnt sugar. (This disorder got its name from this common symptom.) This may not always be present in all types. Poor feeding, vomiting, loss of appetite, irritability.


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