Question
My child was born with very light hair, and upon examination, it was found to have phenylketonuria. What is this condition?
Answer
Phenylketonuria is a common amino acid metabolism disorder caused by enzyme defects in the phenylalanine metabolism pathway, leading to the accumulation of phenylalanine and its metabolites. Phenylketonuria can cause severe damage to the central nervous system and also affect a child’s growth and development. It is recommended to seek treatment early, with medication as the main treatment method.