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Maple Syrup Urine Disease

Maple Syrup Urine Disease is a potentially deadly disorder that affects the way the body breaks down three amino acids, Leucine, Isoleucine, and Valine. The body parts that are affected is one of the proteins inside the body that doesn’t break down and cause the three amino acids from breaking down.
 * Description: **


 * Inheritance: **

Maple Syrup Urine Disease is inherited in an autosomal recessive pattern. For a child to get the disease, he or she must inherit a defective copy of the gene from each parent. If both parents carry the Maple Syrup Urine Disease gene, each child has a 25% chance of getting the disorder and a 50% chance of being a carrier.

A baby who has the disease may appear normal at birth but, within three or four days the symptoms appear. Theses may include: loss of appetite, fussiness, and sweet smelling urine.
 * Symptoms: **


 * Daily Life: **

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 * Diagnosis: **

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

Treatment involved dietary restrictions of the amino acids Leucine, isoleucine and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the three Amino acids. When they are older they have to watch their diet. Gene therapy is also a potential treatment for patients with MSUD.
 * Treatment: **

Genetic Counseling is suggested for people who want to have children and who have a family history of Maple Syrup Urine Disease. Many States now screen all newborns with blood tests for MSUD. If a screening test show that your baby may have MSU a follow up blood test for Amino acid levels should be done right away to confirm the disease.
 * Research: **

MSUD is an extremely rare disorder only 1 in 180,000 babies are born with MSUD. But in certain population, the disease is much more common. Among to Menropites in Pennsylvania, as many as 1 out of every 176 babies is born with the disease.
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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **




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 * Pictures:**
 * [[image:230px-L-isoleucine-skeletal.png width="297" height="306"]][[image:F1.large.jpg width="405" height="276"]][[image:F2.large.jpg width="614" height="412"]]**

Wikipedia article on Maple Syrup Urine Disease- [] Shs-nutrition article on Maple Syrup Urine Disease- []
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resource: **

<span style="font-family: Arial,sans-serif; line-height: 24px;">University of Utah- <span style="font-family: Arial,sans-serif; font-size: 16px; line-height: 24px;">[]