As we know, enzymes break down molecules in our body; our body would not be able to break down things like lactose if it wasn't for enzymes. Phenylketonuria (or PKU) is a genetic disorder that is passed down from both parents. This genetic disruption causes the crucial metabolic enzyme PAH to be disrupted. Without this enzyme; one can accumulate very dangerous and very high phenylalanine levels in their brain. This can cause mental retardation or epilepsy. PKU produces phenylalanine, an amino acid that is a building block for protein. When a doctor or physician thinks that an individual has PKU, they test for phenylalanine in that individuals blood. However, it is possible that high levels of phenylalanine in the blood would not be because of PKU, the doctors would have to be sure by performing other blood tests.
There are several symptoms of PKU, however, symptoms may not be noticeable while this disorder is developing. If a child has PKU; they usually have a smaller head than normal, epilepsy or retardation. There would be an overflow of phenylalanine causing the victims skin to have a musky oder. Deficiency in tyrosine leads to a lighter skin and hair color.
This disorder is very rare, in fact, PKU appears in about 1 in 10,000 caucasians. To treat this disorder, the children must obtain a low-protein diet. They must stay on this diet as long as possible, some doctors even recommend that they stay on the diet for life.
