Phenylketonuria (PKU) is a genetic amino acid metabolism defect. Patient's liver lack of phenylalanine hydroxylase, which affects patient's brain developmen and causes mental retardation. Patients may also have epilepsy, loss of skin color, and smelly urine. Phenylketonuria is treatable and early treatment has better result.
How is Phenylketonuria (PKU) treated in practice?