PKU

PKU is a treatable disorder that is inherited. Children get it from both parents that have one of the mutated genes. If their PAH enzyme is off then the child is at risk for this disorder. It affects the body’s ability to break down an amino acid called Phenylalanine (Phe).  If it's not treated the child could suffer from mental retardation. It can also cause Hyperphenylalaninaemia which can damage brain tissue. In infants, if this happens it can trigger brain related issues throughout life if it's not treated. In adults, it's bad for this to happen because it causes slow reaction and decrease of intellegence. It also may cause anxiety. This also effects children greatly because they have to change their lifestyle because of it. They have to change their diet and the way they eat for as long as possible because it is a form of treatment. They can not eat things with high protein like meet, cheese, milk, and such. In order for doctors to catch this disorder they check newborns blood so they can see if they have elevated levels of certain things or, the protein BH4. This disorder is found mostly in white children (1 in 10,000) and the number get lower in other races. It's very rare in African Americans. This basically happens when you have both parents that have an enzyme that isn't working correctly and the child inherits it. The child gets a build up of a certain protein, which isn't good. The only good thing about this disorder is that it is treatable if it's caught early enough. In the past, doctors placed kids with PKU in a state of severe mental retardation but now it's understood that it is treatable which is great!