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Phenylketonuria Final Presentation

Published on Nov 18, 2015

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PRESENTATION OUTLINE

PHENYLKETONURIA

BY ABIGAIL BJORKMAN

INTRODUCTION

  • Phenylktenouria = PKU
  • Mutation of 12 gene
  • Definiton: can't break down phenylalanine
  • Dangers: damage to neurons in the brain

SYMPTOMS

  • Behavior, social, and emotional problems
  • Weak bones
  • Hyperness
  • Skin rashes (eczema)
  • Musty odor in breath, skin, urine

TREATMENT

  • Lifelong diets with minimal levels of protein.
  • Babies can take a special milk formula.
  • Kids and older may take a supplement.
  • Sometimes patients take sapropterin.
  • Extreme cases may need to have therapy.

LONG TERM EFFECTS

  • Mental Illness
  • Seziures
  • Brain damage
  • Abnormally small head
  • Lifelong diet and supplements

PEOPLE WITH PKU

QUESTIONS?

ALSO THANKS FOR WATCHING!