Alexa Beichler's boys were born with classic phenylketonuria (PKU), a metabolic condition that requires them to be on medical-grade formula for life Anya Leon is a Senior News Editor and the ...

Pegvaliase statistically significantly lowered blood Phe levels in adolescents with PKU compared with diet alone. Topline data were announced from a phase 3 trial evaluating pegvaliase-pqpz in ...

Cutting the federal newborn screening advisory committee either demonstrates a lack of understanding of the group’s function ...

PALYNZIQ is the first and only enzyme therapy approved to treat adults with PKU. BioMarin Pharmaceutical logo (PRNewsfoto/BioMarin Pharmaceutical Inc.) Detailed results from the PEGASUS study will ...

Specifically, Dr. Willard Centerwall, whose child was mentally handicapped, developed the first diagnostic test for PKU in 1957. Called the "wet diaper" test, Centerwall's test involved adding a ...