Question

What is Phenylketonuria (PKU)?

Answer

Phenylketonuria (PKU) is a genetic disorder caused by a congenital amino acid metabolism abnormality, a common chromosomal recessive disease that primarily affects newborns. The condition causes an increase in phenylalanine levels in the body, which can harm the nervous system. If left untreated, this disease may result in severe intellectual disabilities and other health problems. Therefore, early diagnosis and treatment are vital for preventing these outcomes.