What Happens When Phenylalanine Hydroxylase is Deficient?
A deficiency in phenylalanine hydroxylase activity leads to a metabolic disorder known as Phenylketonuria (PKU). PKU is characterized by elevated levels of phenylalanine in the blood, which, if untreated, can result in severe neurological damage. The toxic effects of excess phenylalanine include intellectual disability, developmental delays, and other neurological issues. PKU is typically detected through newborn screening and is managed through dietary restrictions to maintain low phenylalanine levels.
