Question
The child was born without any abnormalities, but as they grew older, their physical growth was particularly slow, and their intellectual development lagged behind. They are very active and often cry and fuss, and their hair is brown. The doctor diagnosed it as phenylketonuria and asked about timely treatment methods.
Answer
Phenylketonuria is a genetic amino acid metabolism disorder. Through early diagnosis and treatment, it can prevent clinical manifestations such as intellectual disability, neurological symptoms, eczema, skin scratches, hypopigmentation, and a mouse-like odor. If detected early and treated promptly, the patient’s intelligence can remain normal, and EEG abnormalities can also be restored. It is recommended to go to a specialized hospital for treatment to achieve the best treatment effect and the fastest recovery speed.