What are the causes and risk factors of phenylketonuria?

Phenylketonuria (PKU) is primarily caused by a genetic mutation in the PAH gene, which is responsible for producing the enzyme phenylalanine hydroxylase that breaks down the amino acid phenylalanine. Risk factors include having a family history of PKU, as it is inherited in an autosomal recessive manner, meaning both parents must carry the mutated gene for a child to be affected. Additionally, certain populations, such as those of Northern European or Asian descent, have a higher prevalence of PKU due to the genetic makeup of these groups. Early diagnosis and dietary management are crucial to prevent the neurological damage associated with elevated phenylalanine levels.