PKUSER!!

Phenylektonuria is an inherited disease. The only way to get it is if both of your parents transfer 2 copies of the mutated gene, one from each of them. Some symptoms include, epilepsy, a smaller than normal head, and mental retardation. These symptoms are generally picked out at birth. The only treatment option is to adhere to a low protein diet that some physicians refer to as the diet of life. PKU is when a genticly mutated gene disrupts the PAH enzyme which leads to an excess of phenylalanine in the brain which can lead to phenylalanine poisoning. This is where the mental retardation and the epilepsy come from. The phenylalanine poisons neurons.