Maple+Syrup+Urine+Disease-Luis+C

Maple Syrup Urine Disease (MSUD) **Description: ****Maple Syrup Urine Disease (MSUD) is a deadly disorder that affects the body and how it breaks down three amino acids. Leucine, isoleucine, and valine. **

**Inheritance: **It is inherited in an autosomal recessive pattern. It must be inherited by a defective copy of the gene from each parent.

**Punnett Square: **

**Symptoms: **Loss of appetite, fussiness, seizures, comas, fatigue, vomiting, and sweet smelling urine.

**Diagnosis: **All babies are screened for MSUD within 24 hours of birth.

**Treatment: **Treatment is involved dietary restriction of the amino acids leucine, isoleucine and valine. Babies can eat a special formula that does not have the amino acids. Future treatment will be gene therapy.

**Interesting Facts: ** media type="custom" key="9657116"


 * Support Groups: **MSUD Family Support Group Organization.

<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">http://www.mdjunction.com/maple-syrup-urine-disease <span style="color: black; font-family: 'Times','serif'; line-height: 115%;">[]
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Sources: **<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">http://www.msud-support.org

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 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Pictures: **