Maple+Syrup+Urine+Disease-+JOHN+VASFAILO!

Maple Syrup Urine Disease (MSUD)
 * Description: **

It’s a deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and the valine. People with MSUD have a mutation that results in a deficiency for one of the 6 proteins that make up this complex.


 * Inheritance: **

MSUD is inherited in an autosomal recessive pattern. If a child would get the disease, he or she would have to inherit a bad copy of the gene from each parent. If both parents carry the disease, each child has a 25 percent chance of having the MSUD disorder and a 50 percent chance of being a carrier. (25% of being normal).


 * Punnett Square: **
 * Symptoms: **

Loss of appetite, fussiness, and sweet-smelling urine. If left untreated, the condition gets worse. Seizures, go into a coma, and die within the first few months of your life.


 * Diagnosis: **

In some states, all babies are screened for MSUD within 24 hours after birth. A blood sample taken from the baby’s heel is analyzed for high leucine levels.


 * Treatment: **

Treatment involved dietary restriction of the amino acids, leucine, isoleucine, and valine. Babies must eat special formula. In adulthood, they must watch their diets, avoiding high protein foods.

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 * Interesting Facts: **


 * Support Groups: **

The MSUD Family Support Group.


 * Sources: **

<span style="color: black; font-family: Times,serif;">Http://learn.genetics.utah.edu/units/disorders/what <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">aregd/

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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pictures: **