Pku blog post

A Metabolic disorder is a genetic disease that results from when an enzyme in your body isn't functioning properly. Phenylketonuria is a recessive disease which means that to have it, the person must have inherited 2 copies of the defective gene. Phenylketonuria is a genetic disease that results from having a defective PAH Gene. If your PAH gene doesn't work right, you build up to much phenylalanine, which poisons the neurons in your brain. The symptoms are a smaller than normal head, lighter than normal skin, or lighter than normal hair. Most people realize they have it right after birth. If not treated, it can cause mental retardation, and can be tracked back to one single gene that is not sufficiently working on chromosome 12. Only 1 in about every 10,000 people have this genetic disorder.