A 52-year-old member asked:
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I just had a maple syrup urine disease diagnosis, what can I expect?

1 doctor answer
Dr. Scott McLean
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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Related questions:

A 50-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families.
A 47-year-old member asked:
Dr. Joanne Peck
45 years experience in Pediatrics
A genetic disease: Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become tox ... Read More
1
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A 53-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Good Info Here: Please check out this website. It has really good information and should be resourceful for you. http://msud-support.org/.
1
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A 49-year-old member asked:
Dr. Quresh Khairullah
41 years experience in Nephrology and Dialysis
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids ( ... Read More
2
2 thanks

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