A 52-year-old member asked:
I just had a maple syrup urine disease diagnosis, what can I expect?
1 doctor answer
Dr. Scott McLean answered
34 years experience in Clinical Genetics
Not sure: Msud is typically diagnosed shortly after birth or before age 1. Frankly I am skeptical of a diagnosis in an adult and suggest you return to the doctor that made this diagnosis and ask for a referral to a metabolic geneticist - to confirm the diagnosis and get proper genetic counseling.
Answered on Mar 19, 2016
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