This page discusses Phenylketonuria (PKU), a genetic disorder resulting from defective genes affecting phenylalanine hydroxylase, leading to harmful phenylalanine buildup. Early diagnosis through bloo...This page discusses Phenylketonuria (PKU), a genetic disorder resulting from defective genes affecting phenylalanine hydroxylase, leading to harmful phenylalanine buildup. Early diagnosis through blood tests is crucial, and genetic screening can assess parental transmission risk. Despite available treatments, testing can be complicated by false negatives. PKU is a recessive trait, but the phenylalanine tolerance test complicates its dominance classification.
