P045: The assessment of the treatment and management landscape of phenylketonuria survey study: Findings from 19 clinics in the United States

Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism characterized by chronic elevations of blood phenylalanine (Phe). While dietary management was historically the standard of care, patients with PKU are often unable to achieve and sustain recommended blood Phe levels with this approach. In recent years, with the US approval of pegvaliase for the treatment of adults with PKU with blood Phe >600 μmol/L and increased awareness of the detrimental effects of elevated Phe levels in adolescence and adulthood, the treatment landscape has changed.