Possible bio-medical treatment for PKU
Allow me to share something I spent months researching for a paper in English class last semester.
Throughout the years since the discovery of PKU there have been efforts to find a way to treat it. So far there is no way to cure this metabolic disorder. The diet offers a suitable solution, seeing as the dangers of having high blood phenylalanine levels can be avoided with a low intake of protein. But this diet is quite inconvenient to follow and it has been shown to have low compliance levels, especially among teens and young adults. So efforts to develop some kind of drug or other bio-medical treatment continue.
One drug that has come onto the market recently is called KUVAN, produced by BioMarin Pharmaceuticals. It is a pill of sapropterin dihydrochloride. The problem with PKU is the enzyme that normally metabolizes phenylalanine is defective. Sapropterin is a synthetic form of the co-factor for that enzyme. The idea is if you increase the amount of the co-factor the enzyme will function more efficiently. This will not work however, if the enzyme is completely dysfunctional or missing, as it may be in some people with PKU.
KUVAN has been tested on people and found to effectively reduce blood phenylalanine levels in some people. What I found in my research is that everyone responds differently to the drug. So if people are interested in it they would each need to work with their own doctor to find if KUVAN works for them, and if so how much more protein they might be able to eat while keeping safe blood levels. As of last year when I went to a PKU Science Night in Seattle, my doctor was not recommending this drug. But it is interesting to keep up with the research that’s going on.