New Treatments for PKU

For many years the only treatment for PKU has been adherence to a strict low phenylalanine diet for life. While new medical foods have made the diet easier it is still expensive and burdensome for many. BioMarin Pharmaceutical has started conducting studies on a new treatment for PK called tetrahydrobiopterin or BH4.

BH4 is the natural cofactor for phenylalanine hydroxylase, the enzyme that is defective in PKU. Studies have shown that BH4 can stimulate the phenylalanine hydroxylase enzyme in some people with milder forms of PKU allowing the body to metabolize more phenylalanine into tyrosine and allowing for greater daily phenyalalnine intake.

While BH4 is not a cure for PKU and does not work for everyone, it could allow those who respond to treatment to eat more high protein foods and perhaps take less formula. If you are interested in learning more about BH4 please contact your metabolic center or BioMarin Pharmaceutical for more information.