Question
How should a newborn diagnosed with phenylketonuria at 14 days old be handled?
Answer
Phenylketonuria is a disease caused by an abnormal metabolism of phenylalanine, where the body is unable to convert phenylalanine into tyrosine normally, leading to high concentrations of phenylalanine and its by-products, which may cause brain damage. Early diagnosis and treatment can lead to most children reaching normal intelligence levels. The treatment of phenylketonuria requires determining the treatment measures based on the type and controlling the blood phenylalanine concentration within a specific range. For families with a child diagnosed with phenylketonuria, prenatal diagnosis can be used to detect whether the fetus has phenylketonuria during pregnancy.