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Maple Syrup Urine Disease (MSUD)
Transcript of Maple Syrup Urine Disease (MSUD)
disease is located in is the Chromosome 19.
Genes located that cause the disorder:
BCKD: Symptoms of MSUD Avoiding food
Urine that smells like maple syrup
Neurological damage Prognosis Can be life threatening if untreated. Children that have MSUD can grow to adult hood with a careful diet limiting the intake of certain amino acids (leucine, lsoleucine, and valine) Normal Function Abnormal Gene Effects Normal Gene function: The gene breaks
down the three amino acids
: leucine, isoleucine, and valine and
with this breakdown it produces
molecules that are used for energy. Genetic mutations that inhibit
the breakdown of specific amino acids. Which result in toxic levels of amino acids. Diagnosis Babies are tested when they're born. A blood sample is taken from the heel and analyzed. Treatment Babies and children are given a special formula. As they grow older they must maintain a special diet. A liver transplant is also an optional treatment. Implications of MSUD Genetic counseling is suggested for people who want to have children.
If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done to confirm the findings. The doctors and yourself should be the only one that needs to be aware of this information. People living with MSUD Facts of MSUD 1 in 180,000 babies is born with MSUD. Prevalance Rate for Maple syrup urine disease:
approx 1 in 384 or 0.26%
or 706,493 people in USA MSUD is more common in Amish Mennonite and Certain jewish communities Results for liver transplantation increase survival rates exceeding 90% References
Amino Acids - Valine. (n.d.). The Biology Project. Retrieved November 25, 2012, from http://www.biology.arizona.edu/biochemistry/problem_sets/aa/Valine.html
Essential Amino Acids. (n.d.). Nutritional Supplements. Retrieved November 25, 2012, from http://www.glisonline.com/essential-amino-acids.html
Maple Syrup Urine Disease . (n.d.). REDIRECTING. Retrieved November 25, 2012, from http://www.chp.edu/CHP/maple+syrup+urine+disease+liver
Maple Syrup Urine Disease (MSUD). (n.d.). Learn.Genetics™. Retrieved November 25, 2012, from http://learn.genetics.utah.edu/content/disorders/whataregd/msud/
Maple Syrup Urine Disease | Eat Know How. (n.d.). Eat Know How | Know the Power of Food! with "K"improved Menus". Retrieved November 25, 2012, from http://eatknowhow.com/2010/04/07/maple-syrup-urine-disease/
Maple syrup urine disease - PubMed Health. (n.d.). National Center for Biotechnology Information. Retrieved November 25, 2012, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/
Our Family Scrapbook. (n.d.). Welcome to MSUD Family Support Group. Retrieved November 25, 2012, from http://www.msud-support.org/index.php?option=com_content&view=article&id=538:our-family-scrapbook&catid=104:volume-27-1&Itemid=5
Treatment. (n.d.). Welcome to MSUD Family Support Group. Retrieved November 25, 2012, from http://www.msud-support.org/index.php?option=com_content&view=article&id=309&Itemid=90