Phenylketonuria is an inherited disorder characterized by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine. The condition affects one in 13,500 to 19,000 newborns in the United States, says NORD. DelveInsight’s Phenylketonuria epidemiological analysis demonstrated a prevalence of 49,887 in the 7MM (the US, EU5 and Japan) in 2020, which is expected to increase further in the coming next decade.
Even though rare, the condition carries a tremendous healthcare burden and leads to severe intellectual disability in cases of a lack of proper treatment. To prevent intellectual disab...
