How can PKU affect a person?
People with PKU are missing an enzyme to break down protein in food, specifically one aminio acid. This amino acid is called phenylalanine, often called PHE (pronounced ‘fee’.) Since this amino acid cannot be completely processed, it builds up in the blood and excess amounts cross the blood-brain barrier. When excess amounts build up, brain damage and other neurological problems result. Most children and adults with PKU must follow a special diet. The PKU diet involves strictly controlling the intake of natural protein (which contains phenylalanine), drinking a synthetic phenylalanine-free protein formula (known as medical food) and eating special low-protein food. The synthetic formula and special low-protein foods are expensive. How often are children with PKU born? PKU is inherited as an autosomal recessive trait. In other words, two people who conceive a child must both be carriers of the gene in order for there to be a chance that their infant will have PKU. When two carriers conc
