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A 39-year-old member asked:

what's maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Joanne Peck
Pediatrics 46 years experience
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 toxic, causing sweet-smelling urine, ear wax, etc-hence the name-but also brain damage. Each parent contributes one gene for this, so the parents are usually carriers. It is very rare (1:180, 000 births) and screened for in the blood test after birth.

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A 33-year-old member asked:

Mortality rate with maple syrup urine disease?

2 doctor answers5 doctors weighed in
Dr. Martin Raff
Infectious Disease 56 years experience
Varies: This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management. If this is followed, individuals can lead normal lives with excellent health, exempting them from the neurologic complications which are responsible for morbidity and mortality.
A 36-year-old member asked:

What test for maple syrup urine disease?

1 doctor answer3 doctors weighed in
Dr. Quresh Khairullah
Nephrology and Dialysis 42 years experience
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate.
A 32-year-old member asked:

How much is too much urine for a newborn?

1 doctor answer2 doctors weighed in
Dr. Michael Sparacino
Family Medicine 37 years experience
Equal parts: They should be putting out approximately the same amount as they are taking in. Signs of excessive urine loss are sunken eyes, dry mouth, wrinkled skin, and sunken fontenelles.
A 29-year-old member asked:

My daughter has maple syrup urine disease. What treatment is effective ?

1 doctor answer1 doctor weighed in
Dr. John Nesbitt
A Verified Doctoranswered
A US doctor answeredLearn more
Transplant: There are several children who had had successful liver transplantation for this genetic disease.
A 45-year-old member asked:

I just had a maple syrup urine disease diagnosis, what can I expect?

1 doctor answer5 doctors weighed in
Dr. Scott McLean
Clinical Genetics 35 years experience
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.

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Last updated Feb 9, 2020

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