Patient's question:
Doctor, hello. Today I received a notification about newborn screening for diseases. It said that my baby's phenylketonuria test data is 2.3, which is below the normal range, and asked me to retest. The child is too young, so I want to wait until the full moon. Could you please tell me what newborn screening tests for?Doctor's answer:
Baby is 18 days old. The phenylketonuria test results are 2.3, which is below the normal range. Phenylketonuria is a type of congenital metabolic disease caused by a chromosomal gene mutation that leads to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in an impaired breakdown of phenylalanine (PA) and causing damage to the central nervous system. The purpose of early screening is to achieve early diagnosis and early treatment. If the diagnosis is phenylketonuria, ordinary milk powder cannot be used for feeding. The baby can be fed with specially formulated low-phenylalanine milk powder, which can maximize the prevention of brain damage. Therefore, it is necessary to undergo a re-examination as soon as possible, as delaying the treatment of neonatal diseases can have a significant impact on the child.