Patient's question:
The child frequently has seizures and has been diagnosed with infantile spasms in major hospitals in Jinan. Screening shows significantly elevated blood alanine.Doctor's answer:
Hello, as you mentioned, hyperphenylalaninemia is generally an autosomal recessive genetic disorder. The current treatment recommendations are to control the phenylalanine concentration at <6 mg/dL through dietary therapy. In addition to dietary therapy