Hi it's Jessie. My genetic disease is Maple Syrup Urine Disease. Maple Syrup Urine Disease is a mutation of the BDKDHA gene on chromosome nineteen. This mutation enables the body to break down leucine, isoleucine, and valine, amino acids. These acids are used to make proteins, but when not being used they a

re broken down or recycled. This is done by 6 proteins working together. They form a complex called branched-chain alpha-ketoacid dehydrogenase or BCKD. If a person has Maple Syrup Urine Disease, they are missing one of the six proteins needed in BCKD. This causes levels of leucine, isoleucine, and valine to become dangerously high and rapidly kill brian cells or cause death if left untreated. Maple Syrup Urine Disease has an autosomal recessive inheritance, meaning you need two of the defective genes to get Maple Syrup Urine Disease.

Because the disease is so severe a person who has it will not live past there first few month of life. All people are diagnosed with Maple Syrup Urine Disease are diagnosed as a baby. The symptoms are loss of appetite, fussiness and sweet smelling urine. If these symptoms occur a blood sample is taken from the

baby and analyzed, but some hospitals do this within 24 hours after the birth. If high levels of leucine are present the baby is put on a special baby formula that does not contain the amino acids. That person then must stay on a special diet for the rest of their lives. If levels of leucine, isoleucine, and valine still get to high, patients can be treated with intravenous solution, given through a vein. This helps the body use up the extra leucine, isoleucine, and valine.

Maple Syrup Urine Disease is extremely rare. Only 1 in 180,000 babies are born with Maple Syrup Urine Disease. Although this disease is rare, in the Mennonites in Pennsylvania, 1 in 176 babies is born with Maple Syrup Urine Disease. Also, in Ashkenazi Jews, 1 in 81 babies os born with Maple Syrup Urine Disease.

If not diagnosed early enough the baby will die within a few mouths. If diagnosed though, the person can have a normal life span if amino acid levels are kept under control.