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Maple Syrup Urine Disease
Transcript
Thank you! (:
What?
- Gets name from sweet odor of urine
- Mostly infants
- Cannot breakdown amino acids
- Leads to blood having chemical buildup
- Genetic defect
"Maple Syrup Urine Disease: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 21 Mar. 2012. Web. 22 Apr. 2012. <http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm>.
"Maple Syrup Urine Disease." Genetics Home Reference. U.S. National Library of Medicine, 16 Apr. 2012. Web. 22 Apr. 2012. <http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease>.
Cites
Maple Syrup Urine Disease
Besides the Name...
- MSUD occurs in 1 infant out of 185,000 in the world.
- Occurs when genes in cells have mutation
- If not treated it can lead to:
- Coma
- Brain damage
- Death
Effects
- Makes urine have a sweet flower smell, or a maple syrup-y smell.
- Stubborn stomache
- Extreme fatigue
- Seizures
- Vomiting
What's the treatment?
When diagnosed with MSUD, part of the treatment is to partake in a diet that is protein free.
- IV
- Careless checking leads to damaged brain
- Frequent blood tests
- Supervision
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