Phenylalanine Hydroxylase Deficiency

  • Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)

    The Hyperphenylalaninemia Disorders Consortium studies the health, neurologic, cognitive, neuropsychiatric, patient-reported and quality-of-life outcomes in individuals with chronic elevations of the amino acid phenylalanine in blood (hyperphenylalaninemia). Elevated blood phenylalanine is typically detected at birth in the United States through newborn screening and is caused by inherited