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Maple Syrup Urine Disease


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Extra Credit for BIOC 460 Final

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Maple Syrup Urine Disease

  1. 1. Case Study By: Shelby Thorvilson
  2. 2. The Patient & Their Symptoms Jacob, a new born baby, was healthy as can be a few days after his birth. However, after that he started showing characteristics of seizures, irritability, failure to thrive, poor suckling response, and little interest in feeding. The doctors performed an examination that showed no sign of infection and his X-rays came back normal. His parents notice a sweet smell to Jacob’s urine, and become concerned because his symptoms are eerily similar to those of an older brother that died shortly after birth. The doctors decide that additional testing should be done.
  3. 3. What is your initial diagnosis for this patient? What additional tests would you run to confirm your hypothesis?
  4. 4. Additional Testing • Urine Analysis • Blood Analysis • White Blood Cell Analysis • Tandem Mass Spectrometry • Molecular Testing (prenatal) • Amino Acid Concentrations in Amniotic Fluid (prenatal)
  5. 5. Diagnosis • Maple Syrup Urine Disease • MSUD is an inherited disorder characterized by the deficiency of branched-chain alpha-keto acid dehydrogenase complex, an enzyme required to breakdown specific amino acids in the body • Since these amino acids are not metabolized, they along with various byproducts, abnormally accumulate in the cells and fluids of the body
  6. 6. Maple Syrup Urine Disease • MSUD is caused by a deficiency of the BCKD complex. This catalyzes the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs • Decarbozylation of the alpha-keto acids is the second step in the degradation pathway of • The BCKD complex has three different catalytic components (E1, E2, E3) • Mutations in E1, E2, and E3 cause MSUD
  7. 7. Treatment Options • Protein-free diet • Intravenous administration of amino acids that don’t contain branched-chain amino acids, combined with glucose for extra calories • Infants have a diet of formula with low levels of the amino acids leucine, isoleucine, and valine.
  8. 8. References Maple Syrup Urine Disease - NORD (National Organization for Rare Disorders). (n.d.). Retrieved December 16, 2016, from diseases/maple-syrup-urine-disease/ Maple syrup urine disease: MedlinePlus MedicalEncyclopedia. (n.d.). Retrieved December 16, 2016, from Maple Syrup Urine Disease. (n.d.). Retrieved December 16, 2016, from overview