Maple+Syrup+Urine+Disease-Tommy+O

Maple Syrup Urine Disease (MSUD) **Description: ** **MSUD is a disease that has the potential to kill someone if not treated early. If someone has it then their urine will smell sweet (like maple syrup) due to their inability to break down the chemicals valine, leucine, and isoleucine. This happens due to a mutation of one of the six proteins that break them down. **

**Inheritance: ** It is a recessive autosomal disease, both parents have to give their children the trait for the children to be affected by it

**Punnett Square: **

**Symptoms: ** Sweet smelling pea, fussiness, loss of appetite

**Diagnosis: ** Babies get screened for it within a day of being born. A blood sample is taken from the foot, if they have high leucine levels then they have Maple Syrup Urine Disease

**Treatment: ** Dietary restriction of leucine, isoleucine, and valine. Babies with the disease must drink a special formula that doesn’t contain those three amino acids too. If they’re still having problems with those three acids then patients can be given an intravenous solution to help reduce those levels.

**Interesting Facts: ** media type="custom" key="9657276" **Support Groups: ** Maple Syrup Urine Disease Support Group **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 115%;">Sources: ** <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%; margin: 0in 0in 10pt;">[] <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%; margin: 0in 0in 10pt;">MSUD-support.org <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%; margin: 0in 0in 10pt;">Cardinal.com <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%; margin: 0in 0in 10pt;">bio.mtu.edu **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 115%;">Pictures: **