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Maple Syrup Urine Disease
Transcript
Who discovered MSUP?
John Menkes discovered MSUP in 1954.
What body systems are affected?
How do you get MSUD?
MSUD is a recessive genetic disease. Both parents of a child with MSUD must carry a mutation in the same gene.
Treatments for MSUD
Treatment involves going on a protein free diet. Peritoneal dialysis or hemodialysis can also be used to reduce level of amino acids.
Maple Syrup Urine Disease
What is the status on MSUD?
MSUD is not very common. It affects an estimated 1 in every 185,000 infants worldwide.
As of right now, the only treatment for this disease is to go on a protein free diet.
Signs and Symptoms
- avoiding food
- coma
- lethargy
- seizures
- urine that smells like maple syrup
- vomiting
- weight loss
- high-pitched cry
- irregular sleep patterns
How is this disease diagnosed?
Internet sources:
www.nytime.com
healthline.com
health.mo.gov
Punnett square for MSUD
m
M
MM
Mm
M
Mm
Mn
m
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