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PKU ( Phenylketonuria )

PKU ( Phenylketonuria ). By Logan Tavares and Stephanie Ding Yay everyone please pay attention. Cause. Autosomal recessive trait mutations in both alleles chromosome 12. Symptoms. Mental retardation Seizures Hyperactivity Tremors Odor Melanin Delayed mental/social skills.

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PKU ( Phenylketonuria )

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  1. PKU (Phenylketonuria) By Logan Tavares and Stephanie Ding Yay everyone please pay attention

  2. Cause • Autosomal recessive trait • mutations in both alleles • chromosome 12

  3. Symptoms • Mental retardation • Seizures • Hyperactivity • Tremors • Odor • Melanin • Delayed mental/social skills

  4. Treatment :D • Strict diet • Low in PAH • Start early • Otherwise won’t work 

  5. Who? • Sex = no effect • N-European/Native American ancestry

  6. Testing • Not positive • Mutation is not helpful • Big effects • If not detected early

  7. Testing (cont.) • No pain • Cost/availabilty of treatment Good • Liable • No medications usually

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