Maple Syrup Urine Disease - PowerPoint PPT Presentation

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Maple Syrup Urine Disease

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  1. Maple Syrup Urine Disease Kayleigh “Kulu” Peregrine

  2. Maple Syrup Urine Disease, commonly called MSUD, is a metabolism issue in the body where the body cannot break down certain parts of proteins. Definition of Disorder

  3. Avoiding food • Coma • Feeding difficulties • Lethargy • Seizures • Urine that smells like maple syrup • Vomiting Symptoms

  4. Because people with this condition cannot break down certain amino acids (leucine, isoleucine, and valine), it causes a buildup of chemicals in the blood. These proteins are usually broken down by a team of six proteins that form a complex called BCKD (branched-chain alpha-ketoacid dehydrogenase) and when there is a deficiency in one of the six proteins. When a person has dangerous levels of amino acids in the blood, it causes rapid degeneration of brain cells and death if not treated. Cause of Disorder

  5. Inherited in an autosomal recessive pattern so both copies of the gene have mutations. Parents can carry one copy of the mutated gene, but don’t usually have signs of the disorder. Both parents are carriers, their children have a 25% chance of having it and a 50% chance of being a carrier. How is it inherited?

  6. Most people have to have a dietary restriction of the amino acids that cause the buildup in the blood, unless brain damage will continue. Babies will eat special formula that doesn’t have the amino acids in it, and as they grow they must always watch their diet to avoid high protein foods like meat, eggs, and nuts. This diet is permanent If the levels get too high there is a solution that can be injected to help the body use up the excess amino acids. In the future, there is Gene Therapy where they replace the mutated gene with a good copy. How is it treated?

  7. Most babies are screened for MSUD within 24 hours after being born. Blood sample is taken from the baby’s heel and tested for high leucine levels. There’s also Plasma Amino Acid tests, and Urine Amino Acid tests Diagnosis

  8. This affects 1 in 180,000 infants worldwide. Occurs more frequently in the Old Order Mennonite population in Pennsylvania – 1 in 176 newborns Likeliness to have it

  9. • This article talks about how getting a liver transplant improves a patients outcomes in maple syrup urine disease. Research Article

  10. • • Websites