PKU: New Treatment Option Approved

 

     Phenylketonuria (PKU) is a rare condition which involves a gene mutation at birth, leading to an insufficient amount of the enzyme required to break down the amino acid phenylalanine. Amino acids are needed to build protein. Therefore, phenylalanine is contained in foods high in protein. Persons with PKU may develop serious complications if foods high in protein are consumed. Symptoms range from mild to severe, including skin rashes, hyperactivity, stunted growth, and mental retardation.

     The main treatment for PKU is a diet consisting of minimal amounts of phenylalanine. Persons with PKU should avoid all high-protein foods, such as eggs and meat, as well as products that contain aspartame (NutraSweet, Equal). Aspartame, found in many diet sodas, releases phenylalanine when digested. Other foods that may need to be limited include bread, cookies, and certain fruits and vegetables. Recently, the Food and Drug Administration (FDA) has approved sapropterin dihydrochloride (Kuvan) for the treatment of certain persons with PKU. This medication works by decreasing levels of phenylalanine in persons with a specific type of PKU. This medication is the first medication approved for this condition, and should be used in conjunction with a diet limited in phenylalanine content.