Question
What should I do after a year of being misdiagnosed with Phenylketonuria?
Answer
Patients should undergo a thorough examination to determine if they actually have the condition. If they do have Phenylketonuria, strict control of phenylalanine intake in their diet is necessary. If they do not have the condition, there is no need to continue limiting their diet. The treatment for Phenylketonuria primarily involves controlling phenylalanine intake to prevent the accumulation of its intermediate metabolites, thereby preventing liver damage and brain development abnormalities. Therefore, being misdiagnosed with Phenylketonuria has a relatively small impact on the child, but if a real disease is missed, it may result in missed opportunities for optimal treatment, causing irreversible harm to the child.