Patient's question:
A newborn baby was diagnosed with phenylketonuria at 20 days, urgent urgent urgent... The child was born on June 10, 2011, and heel blood was collected on June 23. On July 4, the hospital informed the family that the child had phenylketonuria. They were told to come back for a recheck on July 6. Now the child has daily diarrhea, small red bumps on the face, and small bumps on the scalp with white pus. The child also cries a lot. Are these symptoms of phenylketonuria? The child has not yet gone for a recheck, and the blood phenylalanine concentration is unknown. The patient is a boy!Doctor's answer:
A newborn baby was diagnosed with phenylketonuria at 20 days. If the follow-up test still shows high levels, a definitive diagnosis can be confirmed, and timely treatment is required.Small red bumps appeared on the face, and there were also small bumps on the scalp. Rashes can be one of the symptoms, but they primarily affect intellectual development.
After diagnosis, dietary treatment is necessary, typically involving low-phenylalanine formula, which can prevent intellectual disability. This treatment is generally maintained at least until the child starts elementary school, and it may be needed for a longer duration.
Timely treatment can prevent intellectual impairment. Currently, there are no other treatment methods available.