what is pku

Phenylketonuria (PKU) is a rare inherited disorder caused by a change in the phenylalanine hydroxylase (PAH) gene, which leads to a lack of or reduced amount of the enzyme needed to process phenylalanine, an amino acid. This results in a dangerous buildup of phenylalanine in the body, which can lead to serious health problems if left untreated. PKU can often be managed by following a diet that is low in phenylalanine, which involves avoiding protein-rich foods such as meat, dairy, nuts, and certain artificial sweeteners. If left untreated, PKU can lead to intellectual disability and other serious health issues. Early diagnosis and the correct treatment, which includes a special diet and regular blood tests, can help most children with PKU live healthy lives. PKU is a genetic condition that passes to children from their parents in an autosomal recessive pattern, and studies suggest a higher risk among people of Native American or European descent. If a person with uncontrolled PKU has high levels of phenylalanine during pregnancy, this can cause intellectual disability, birth defects, and other problems in their baby, even if the baby doesnt have PKU.