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Jake Oakes MSUD

Published on Nov 19, 2015

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PRESENTATION OUTLINE

1.

MAPLE SYRUP URINE DISEASE

AKA MSUD
2.

WHAT IS MSUD?

MSUD IS A METABOLISM DISORDER IN WHICH THE BODY CANT BREAK DOWN CERTAIN AMINO ACIDS.
3.

WHERE IS IT FROM?

BCKDHA, BCKDHB, DBT, and DLD GENES.
4.

SYMPTOMS

  • Avoiding food
  • Coma
  • Feeding difficulties
  • Urine that smells like maple syrup
  • Seizures
5.

TREATMENT

DURING EPISODES, TREATMENT INVOLVES EATING A PROTEIN-FREE DIET.

Jake Oakes

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