Patient's question:
Please ask if a newborn with congenital hypothyroidism and phenylketonuria has a positive result for one item, can it be treated? Is it very serious? I'm so worried...Doctor's answer:
Nowadays, medicine is advanced enough to treat it well. It is recommended to seek treatment early. Once the diagnosis is clear, active treatment should be given as soon as possible, primarily through dietary therapy. The younger the age at the start of treatment, the better the outcome. Phenylketonuria is a common amino acid metabolic disorder caused by a deficiency in the enzyme pathway of phenylalanine metabolism, which prevents phenylalanine from being converted into tyrosine. Clinically, it primarily manifests as intellectual disability, seizures, and reduced pigmentation.