Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. This condition is caused by a mutation in the gene responsible for producing an enzyme called phenylalanine hydroxylase.
The prevalence of PKU varies among different populations and regions. In general, PKU is considered a relatively rare disorder. According to available data, the global prevalence of PKU is estimated to be around 1 in 10,000 to 1 in 20,000 births. However, the prevalence can be higher in certain populations, such as individuals of Irish or Turkish descent.
PKU is more commonly diagnosed through newborn screening programs. These programs aim to identify affected infants shortly after birth, allowing for early intervention and treatment. By following a strict low-phenylalanine diet, individuals with PKU can prevent the buildup of phenylalanine in their bodies, which can lead to intellectual disability and other serious health problems if left untreated.
While PKU is considered a rare disorder, its impact on affected individuals and their families can be significant. Ongoing research and advancements in genetic testing and treatment options continue to improve the management and outcomes for individuals living with PKU.