Maple+Syrup+Urine+Disease-Anna+B

 Maple Syrup Urine Disease **Description: ** Maple Syrup Urine Disease affects the process of thebody breaking down the three amino acids: sleucine, isoleucine and valine. These are broken down by six proteins that work together to form a complex. People who have MSUD have a mutation which leads to the inability to break down the three acids causing degeneration in the brain and if left untreated, death may result.

**Inheritance: ** MSUD is autosomal and is inherited in such a recessive pattern. A defective copy of the gene from each parent is required in order for the child to inherit the disease. If the above is done, each of the parents’ offspring has a 25% chance of getting the disease and it is 50% likely for the offspring to be a carrier

**Punnett Square: ** **Symptoms: ** At birth, the baby appears normal. After three or four days, however, the baby loses its need to eat and may become fussy. Sweet-smelling urine, often similar to maple syrup, also is common. This is the origin of the name of MSUD. If no treatment occurs, the baby will go through seizures, coma and death within several months after birth.

**Diagnosis: **In one method of diagnosis, doctors screen babies for MSUD 24 hours after being born. In another method, blood tests from the baby’s heel check for leucine problems.

**Treatment: **Treatment, in some cases, must begin shortly after the baby’s birth in order to prevent brain problems. Babies take a formula that doesn’t have the three main acids. After several years, the person must be watchful of what he or she eats, which includes avoiding meat, nuts, and other foods that are good sources of protein. Gene therapy is also a common treatment. In gene therapy, the mutated gene is replaced with a good copy.

**Interesting Facts: ** MSUD is an extremely rare disease with only 1 in 18000 babies born with it. In parts of Pennsylvania, 1 out of 176 babies are born with MSUD. The most common mutation that causes MSUD is in a gene on Chromosome 19.

<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Albert Einstein Medical Center <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">5501 Old York Road, Levy 2 West <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Philadelphia, PA <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">University of Miami Miller School of Medicine <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Miami, FL
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Support Groups: **<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">The Victor Center For Jewish Genetic Disorders

<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">[|www.mazonguide.com]
 * <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%;">[|www.utah.edu/units/disorders/whataregd]


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