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Maple syrup urine disease

Maple syrup urine disease. By Luke Janocha. What is MSUD?. Maple Syrup Urine Disease is a genetic disorder in which the body cannot break down 3 amino acids: leucine , isoleucine , and valine . It deteriorates brain cells. It is a recessive trait that can lead to death is left untreated.

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Maple syrup urine disease

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  1. Maple syrup urine disease By Luke Janocha

  2. What is MSUD? • Maple Syrup Urine Disease is a genetic disorder in which the body cannot break down 3 amino acids: leucine, isoleucine, and valine. It deteriorates brain cells. • It is a recessive trait that can lead to death is left untreated. • It is called Maple Syrup Urine Disease because the patients urine has the sweet smell of maple syrup.

  3. How is it caused? • It is caused by inheriting that trait from both parents. Even though its a recessive trait, as you can see in the picture, there is a 25% chance to get the disorder, and a 50% chance to inherit the trait.

  4. Signs of MSUD • The most common form of MSUD will occur in infants between 4 – 7 days after birth. • Symptoms include: poor feeding, difficulty to wake up, poor weight gain, vomiting, changes in muscle tone and spasms, seizures, and burnt sugar smell to the urine.

  5. How does MSDU relate to other cell processes? • MSUD relates to meiosis. Since meiosis makes gametes, the only chance to get this disorder is by having the genes in your cells. It is most common to have the gene in chromosome 19.

  6. How do the symptoms relate to other cell processes? • The cells aren’t being efficient enough to exchange wastes, respire, etc.

  7. Homeostasis • Homeostasis is balance. It is not maintained by the amino acids, obviously because they cannot be broken down.

  8. Other MSDU Facts • A very rare disease, only 1 in 180,000 babies will be born with it. • Among the Mennonites in PA, 1 in 176 will be born with it A young Mennonite boy. Photo by stanthejeep

  9. References • <ref>http://learn.genetics.utah.edu/content/disorders/whataregd/msud/index.html<ref> • <ref>http://rarediseases.about.com/od/rarediseases1/a/062004.htm <ref> • <ref>http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease <ref>

  10. Pictures • Picture #1- <ref>http://learn.genetics.utah.edu/content/disorders/whataregd/msud/index.html<ref> • Picture #2-<ref>http://learn.genetics.utah.edu/content/disorders/whataregd/msud/index.html<ref>

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