A 6-year-old child is brought to the OPD with a history of mental retardation, failure to walk , failure to grow, seizures, hyperactivity, and tremors. On examination, there is microcephaly, fair hair, light skin color, and blue eyes. Which of the following enzyme is deficient in this child?
The given clinical manifestations point to the diagnosis of Phenylketonuria (PKU). Deficiency of the enzyme phenylalanine hydroxylase Reference: Harpers illustrated biochemistry 30th edition
Homogentisate dioxygenase
Tyrosinase
Fumaryl acetoacetate hydroxylase
Phenylalanine hydroxylase
General anatomy