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
Treatment :D Strict diet – Low in PAH Start early Otherwise won’t work
Who? Sex = no effect N-European/Native American ancestry
Testing Not positive Mutation is not helpful Big effects – If not detected early
Testing (cont.) No pain Cost/availabilty of treatment Good Liable No medications usually