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Maple syrup urine diseaese bobby mattes

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Maple syrup urine diseaese bobby mattes

  1. 1. Maple Syrup Urine DiseaseBranched-chain Ketoaciduria By Bobby Mattes
  2. 2. How it got it’s nameThe reason why it got itsname is !om the sweetodor it gives off !om theUrine.
  3. 3. What is it ?It is a inherited disorder in which you could not processamino acids properly. It gives mostly infants in thebeginning of infancy the sweet sme%ing odor.
  4. 4. What happens in the body The reason for the build up is because of a defective BCKD protein complex so large toxic amounts of leucine, isoleucine and valine build up in the body.
  5. 5. How common is itIt effects an estimated 1 in 185,000 infants Worldwide. Itis Much more !equently found in old order mennonitepopulations with an estimated 1 in 380 newborns.
  6. 6. ManagementTo keep it under control it requires careful monitoring ofblood chemistry and a special diet and !equent testing.If not treated it can lead to seizures, coma and death.
  7. 7. What genes are involvedMutations in BCKDHA, BCKDHB, DBT and DLDcause the Disease. And their job as being Genes is to giveinstruction to make proteins that work together as acomplex.
  8. 8. How do people inherit itIt is a autosomal Recessive so it needs two copies but oneof the parents could be a carrier but not now it.
  9. 9. Citations"Maple Syrup Urine Disease." Wikipedia. Wikimedia Foundation, 28 Mar. 2012. Web. 04 Apr. 2012. <http://en.wikipedia.org/wiki/Maple_syrup_urine_disease>."Maple Syrup Urine Disease." - Genetics Home Reference. Web. 04 Apr. 2012. <http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease>.

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