Phenylketonuria(PKU) What is it? -Newborn babies are screened for high levels of phenylalanine in their blood. Inheritance: PKU is a recessive disorder A person can only get it by inheriting 2 copies of the mutated gene one from each parent.  Treatment: -Children that have PKU should be on a low protein-diet as soon as the disorder is diagnosed. -Stay on the diet as long as possible! -Even after age 12, the diet changes a person's behavior. -Recommendation:"Diet for Life" Incidence: -PKU occurs in about 1 in 10,000 births in Caucasians and East Asians - This disorder is rare for Africans.  |
 (Citation 5) Symptoms: -Smaller head than normal -Mental Retardation -Lighter Skin and Hair Color Cause: -When a person inherits genetic mutation that disrupts the function of a crucial metabolic enzyme. A person can accumulate high phenylalanine levels in the brain. -Phenylalanine poisons the neurons, and causes mental retardation.(Citation 12)  |
