Bringing new hope for phenylketonuria patients, FDA has approved novel enzyme therapy: Pegvaliase for treatment of this rare genetic disorder. Pegvaliase is a phenylalanine-metabolizing enzyme indicated for patients having uncontrolled blood phenylalanine concentrations >600 micro mol/L. What is Phenylketonuria (PKU)? Approximately 48000 people are affected by PKU in India. Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).
It causes phenylalanine to build up in the body. If left untreated, it leads to neurologic, cognitive, developmental, psychiatric, and behavioral complications that decrease quality of life. What Is The Existing Treatment? PKU cannot be cured and the treatment mainly includes restriction of phenylalanine in diet. The current treatment for PKU is listed below: Dietary…
