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