Recently, the FDA approved Palynziq (pegvaliase-pqpz; BioMarin Pharmaceutical Inc.), a phenylalanine-metabolizing enzyme indicated to reduce blood phenylalanine concentrations in adult patients with phenylketonuria who have uncontrolled blood phenylalanine concentrations greater than 600 micromoles per liter on existing management.
Phenylketonuria (PKU) is a rare genetic disorder that affects 1 in 10,000 to 15,000. PKU is caused by a defect in the PAH gene that helps create the enzyme needed to break down the amino acid phenylalanine; this defect leads to buildup of phenylalanine in the body. A person with PKU that eats foods containing proteins or aspartame lacks the enzymes necessary to break down the phenylalanine, which can result in serious health issues, including brain damage.
In the United States, babies are routinely screened for PKU shortly after birth. Due to early screenings, this rare genetic disorder can be diagnosed to allow for treatment to begin after birth. Vigilant supervision of foods is necessary to allow for a “normal” lifestyle. Palynziq is an additional treatment option for people with PKU.
Additional information about Palynziq can be found . A Hayes Technology Prognosis Overview on Palynziq is available here.