10. pangan maple syrup disease

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10. pangan maple syrup disease

  1. 1. MAPLE SYRUP DISEASE”Branched-chain ketoaciduria”By: PANGAN, DMD2D
  2. 2. What is MSUD? is an autosomal recessive, metabolic disorder affecting branched-chain amino acids. It is one type of ”organic acidemia” the disease is named for the presence of sweet-smelling urine, with an odor similar to that of maple syrup. is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and valine. (used as supplements for body (muscle) building.)
  3. 3. What is MSUD? People with MSUD have a mutation that results in a deficiency for one of the 6 proteins that make up this complex. Therefore, they cant break down leucine, isoleucine, and valine. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and death if left untreated.
  4. 4.  Defects in any of the six subunits that make up the BCKD protein complex can cause the development of MSUD. The most common defect is caused by a mutation in a gene on chromosome 19 that encodes the alpha subunit of the BCKD complex (BCKDHA).
  5. 5. How do people get MSUD?  MSUD is inherited in an autosomal recessive pattern.  For a child to get the disease, he or she must inherit a defective copy of the gene from each parent.  If both parents carry the MSUD gene, each of their children has a 25 % chance of getting the disorder, and a 50 % chance of being a carrier.
  6. 6. A young boy with MSUD at 5 months
  7. 7. What are the symptoms of MSUD? A baby who has the disorder may appear normal at birth. But within three to four days, the symptoms appear. These may include:• loss of appetite• fussiness• sweet-smelling urine The elevated levels of amino acids in theurine generate the smell, which isreminiscent of maple syrup.
  8. 8. How do doctors diagnose MSUD? In some states, all babies are screened for MSUD within 24 hours after birth. A blood sample taken from the babys heel is analyzed for high leucine levels.
  9. 9. How is MSUD treated? Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts.
  10. 10. How is MSUD treated? Iflevels of the three amino acids still get too high, patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine, and valine for protein synthesis. Gene therapy is also a potential future treatment for patients with MSUD. This would involve replacing the mutated gene with a good copy, allowing the patients cells to generate a functional BCKD protein complex and break down the excess amino acids

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