International PKU Day
June 28, 2021
PKU is an inherited disorder, caused by a
faulty gene. People with PKU are born with a deficiency of a liver
enzyme called phenylalanine hydroxylase (PAH). PAH is needed to process
an amino acid called phenylalanine (Phe), found in foods containing
The phenylalanine hydroxylase enzyme deficiency causes phenylalanine to build up in the body and this can eventually lead to serious health problem such as neurological problems, skin rashes, delayed development etc.
International PKU Day was an idea born by the E.S.PKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria). Supported by the delegates the first PKU Day took place in 2013.
Inspired by the idea of the Rare Disease Day, which takes place every year, but focuses on a wide variety of diseases, PKU Day marks a special day for Phenylketonuria each year.