Maple Syrup Urine Disease

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Maple Syrup Urine Disease

• Harrison Grass

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Different names of Maple Syrup Urine Disease

• MSUD
• BCKD deficiency
• Branched-chain alpha-keto acid dehydrogenase
  deficiency
• Ketoacidemia

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Mode of Inheritance

• Gene-BCKHDA
• Chromosome 19
• It is recessive.
• 1 out of 180,000 people are born with this
  disease.

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Punnett Square

• The mother is a heterozygous recessive and the
  father is also a heterozygous recessive which
  means they are both carriers of MSUD but neither
  of them are affected with the disease.

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Symptoms Detection of MSUD

• Loss of appetite
• Fussiness
• Sweet smelling urine
• Lethargy
• Vomiting
• Seizures
• Coma
• Mental Retardation

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Diagnostic Testing

• The Urine amino acids test checks for high levels
  of Leucine, Isoleucine and Valine, which
  indicates errors of metabolism.
• Plasma amino acids-a screening that tests for
  problems with amino acid metabolism.
• Ketosis-This measures ketones in the blood.
  Ketones are substances within the blood that are
  produced when fat cells break down. These ketones
  can make ones blood more acidic.

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Prognosis

• There are no specific survival rates for MSUD
  because it depends on how soon the disease is
  treated. In some cases if the disease is not
  found early then the infant can die in a matter
  of days. At stressful times it is possible for
  this disease to worsen to the point of death.

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Treatment

• This disease is treatable but at times very
  difficult. Treatments include a specific diet
  without branched-chain amino acids for the rest
  of ones life, Peritoneal dialysis to remove high
  levels of amino acids, acute acidosis to restore
  normal pH level and fluids, sugar and fat are
  given to a patient to prevent dehydration and
  provide energy to stimulate protein synthesis,
  which lowers the level of amino acids that cannot
  be broken down because of this disease. Another
  form of treatment is gene therapy. Gene therapy
  would replace a mutated gene with a good copy.
  This would allow a patients cells to make a
  functional BCKD protein complex, which would help
  break down the three amino acidsLeucine,
  Isoleucine and Valine.

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Current Research

• There is not much additional research happening
  right now because of the rarity of this disease.
  But there are organizations that want to increase
  the quality and number of screenings for this
  disease to find and prevent the disease early on
  in life. By more screenings being performed
  scientists and doctors find more information
  about this deadly disease.

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Genetic Counseling

• Genetic counseling is extremely suggested to a
  parent who has MSUD, is a carrier of MSUD or if
  they have family history of MSUD to prevent or
  treat the disease.
• A genetic counselor would also suggest for the
  person with MSUD history or infant to have blood
  checks done to see if there are high levels of
  amino acids and if so this should be treated
  immediately.
• A genetic counselor would suggest immediate
  testing and prevention if symptoms show or family
  history of MSUD is present. S/he would also
  direct the person or infant to see a doctor
  immediately.

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Graphics
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Additional Interesting Facts

• This disease is very rare but more common among
  the Mennonites from Pennsylvania.
• Normally 1 out of 180,000 babies are diagnosed
  with MSUD but in the Mennonite community 1 out of
  every 176 babies are diagnosed with this disease.
• MSUD got its name from the sweet-smelling pee in
  result of this disease.

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Credits

• http//learn.genetics.utah.edu/units/disorders/wha
  taregd/msud/index.cfm
• http//www.savebabies.org/diseasedescriptions/msud
  .php
• http//www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id
  248600
• http//www.nlm.nih.gov/medlineplus/ency/article/00
  0373.htm