Phenylketonuria (PKU) is a rare genetic disorder characterized by an inability to metabolize the amino acid phenylalanine. This condition is caused by a deficiency or malfunction of the enzyme phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine. High levels of phenylalanine can lead to severe neurological damage and cognitive impairment if not managed through diet or other interventions.
