Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to process an essential amino acid called phenylalanine. This condition is also known by several other names, including Folling's disease, phenylpyruvic oligophrenia, and PKU syndrome.
PKU is caused by a deficiency of an enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine into another amino acid called tyrosine. Without this enzyme, phenylalanine builds up to toxic levels in the blood and brain, leading to various neurological and cognitive impairments.
Individuals with PKU often experience intellectual disability and developmental delays if the condition is left untreated. Other symptoms may include seizures, eczema, hyperactivity, and behavioral problems. It is crucial to diagnose PKU early in life through newborn screening tests to prevent these complications.
The primary treatment for PKU involves following a strict low-phenylalanine diet. This diet restricts the intake of foods high in phenylalanine, such as meat, fish, dairy products, and certain fruits and vegetables. Individuals with PKU must rely on specially formulated medical foods and supplements to meet their nutritional needs while avoiding phenylalanine.
With early diagnosis and proper management, individuals with PKU can lead relatively normal lives. Regular monitoring of blood phenylalanine levels and close collaboration with healthcare professionals, including genetic counselors and registered dietitians, are essential for maintaining optimal health and preventing complications associated with PKU.