Question

The newborn was diagnosed with phenylketonuria during a check-up 20 days after birth. The parents received a hospital notification on July 4th, informing them of the child’s condition and suggesting a follow-up on July 6th. The child currently experiences persistent diarrhea, red spots on the face and scalp, and white pus-filled bumps, along with frequent crying. Are these symptoms related to phenylketonuria? The follow-up has not yet been conducted, and it is unclear what the blood phenylalanine concentration is, with the child being male.

Answer

If the follow-up test shows high levels of phenylketonuria indicators, a confirmed diagnosis can be made, necessitating immediate treatment. The red spots on the face and scalp can be one of the symptoms, but the main impact is on intellectual development. After diagnosis, dietary treatment should be initiated, typically using low-phenylalanine formula milk to prevent intellectual disability. This dietary treatment usually continues until the child starts elementary school and may sometimes require a longer duration. Timely treatment can prevent intellectual impairment. Currently, there are no other treatment methods available.