Maple+Syrup+Urine+Disease-Madison+R

Maple Syrup Urine Disease

**Description: ** MSUD affects the way the body breaks down three amino acids, leucine, isoleucine, and valine . When these acids aren’t being used to make protein, they are recycled or being used to make energy. They are usually broken down into six proteins. If one has a mutation that results in a deficiency can mean they have MSUD.

**Inheritance: ** MSUD is inherited in an autosomal recessive pattern. For a child to get the disease, he must inherit from both parents, a defective copy of the gene. If both parents carry MSUD gene, each of their children have a 25% chance of getting the disorder and a 50% chance of being a carrier.

**Symptoms: ** The symptoms of a baby with MSUD are: - Loss of appetite - Fussiness - Sweet-smelling urine <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: normal; margin: 0in 0in 0pt 0.5in;">If it is left untreated: <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Seizures <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Go into coma for periods of time <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">- <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Die with in the first few moths of life

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

<span style="font-family: 'Times New Roman',serif;">media type="custom" key="9499890"

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">MSUD is diagnosed by taking a blood sample from the baby’s heel. It is analyzed for high leucine levels.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Babies with MSUD must eat a special formula that doesn’t contain amino acids. As the child grows to become an adult, they must watch their diet and avoid high protein food. If the levels of the amino acids get too high, people can be treated with an intravenous solution that helps the body use up the extra amino acids. Gene therapy is also used. It involves replacing the mutated gene with a good copy.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Fund raisers are collecting money to put toward treatments for MSUD

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Only one in one-hundred eighty thousand babies are born with MSUD. In certain populations it is much more common. Among the Mennonites in Pennsylvania, as much as one in one-hundred seventy six babies are born with it.

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

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



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

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">[|Learn Genetics from Utah University] **

<span style="color: blue; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">Pub Med Health