Illuminating Phenylketonuria

Phenylketonuria (PKU) is a rare autosomal recessive condition caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This gene is involved in the production of the PAH enzyme. Since this enzyme is necessary for the breakdown of the amino acid phenylalanine, its deficiency leads to an accumulation of phenylalanine in the blood. If untreated, the toxic effects of phenylalanine can lead to severe and permanent intellectual impairment. Other symptoms of untreated PKU include neurological issues, eczematous rash, motor deficits, delayed development, and behavioral and psychiatric problems.

PKU Awareness Day, which was on December 3, reminds us of the importance of promoting patient care and support, driving research, and accelerating the timeline for a cure.

Universal newborn screening