Phenylketonuria (PKU) is a rare genetic disorder in which the body is unable to break down an amino acid called phenylalanine. This leads to a buildup of phenylalanine and its byproducts in the blood and can cause damage to the brain and nervous system.
PKU is caused by mutations in the gene that provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is responsible for converting phenylalanine to another amino acid called tyrosine. Without this enzyme, phenylalanine and its byproducts can accumulate in the body.
PKU is typically diagnosed in newborns through a routine blood test done shortly after birth. If left untreated, PKU can cause intellectual disability, developmental delays, seizures, and other neurological problems. However, early treatment can prevent or reduce these complications.
The main treatment for PKU is a special diet that restricts foods that are high in phenylalanine, such as meat, fish, eggs, dairy products, and some fruits and vegetables. People with PKU need to follow this diet throughout their lives and may also need to take supplements to ensure they get all the necessary nutrients.
In addition to dietary restrictions, some people with PKU may also need to take medications or undergo additional treatments to help manage their symptoms. Regular monitoring and management by a medical professional are essential for people with PKU to prevent complications and ensure optimal health outcomes.