Question

The baby has been dull since birth, sometimes with a hollow gaze, and doesn’t respond to play, or if it does, it’s very slow. The baby has a special mouse-like smell on the body and in the urine, and it’s getting worse. There are some rashes on the body, and the skin is very dry. The baby cries and is very active. What is the disease?

Answer

Phenylketonuria is a congenital enzyme deficiency that causes the corresponding substances in the baby’s body to be unable to metabolize normally and accumulate within the body, which can gradually affect the baby’s intelligence and growth and development. There may be no early symptoms, so once diagnosed, it is necessary to go to the hospital for early treatment. Long-term use of special formula milk is recommended. It is suggested to go to a regular professional hospital for a detailed examination before treatment and pay attention to a light diet.