Patient's question:
When the child was born, there were no abnormalities, but as they grew older, their physical growth was particularly slow, and their intelligence did not keep up. They were very active and often cried. The hair on their body was brown. The doctor said it was phenylketonuria and that timely treatment was needed.What kind of help is needed: Can phenylketonuria be treated?
Doctor's answer:
This disease is relatively common among hereditary amino acid metabolic disorders. It follows an autosomal recessive pattern of inheritance over generations. Clinical manifestations are heterogeneous, with the main diagnostic features being intellectual disability, neurological symptoms, eczema, skin scratching signs, depigmentation, and mouse-like odor, as well as abnormal electroencephalogram (EEG) results. If early diagnosis and early treatment are achieved, the aforementioned clinical manifestations can be prevented from recurring, intellectual function can remain normal, and EEG abnormalities can be completely restored. It is recommended to seek treatment at a hospital that offers effective results, quick recovery, and complete elimination of clinical symptoms.