Maple+Syrup+Urine+Disease-Jordyn+Spina

Maple Syrup Urine Disease


 * Description: A ** deadly disorder that affects the way your body breaks down three amino acids, normally they are broken down by six proteins that act as a team and make BCKD.
 * Inheritance: **Inherited by the parents, most common defect is caused by a mutation in a gene, it is sex linked because it says the children have a 25% chance of getting a disorder and 50% chance of being a carrier.
 * Punnett square: **



MSUD support group/daily strength. Org
 * Symptoms: - **Loss of appetite, fussiness, sweet smelling urine, the amino acids tend to smell like maple syrup, if you don’t treat the condition worsens. The child will have seizures, go into coma, and then eventually die.
 * Diagnosis: ** All babies are screened within the first 24 hours of birth. A blood sample is taken from the heals and analyzed for high leucine levels.
 * Treatment: **dietary restriction of amino acids and treatment must begin early to prevent brain damage. Babies with this disease must eat a special formula that doesn’t contain amino acids. When they are adults they must watch their diet and not eat high protein foods such as … meat, eggs, and nuts.
 * Interesting Facts: media type="custom" key="9656688" **
 * Support groups: ** MSUD family support group
 * <span style="font-family: 'Times New Roman','serif'; font-size: 19px; line-height: 115%;">Pictures: **