Patient's question:
Since birth, the baby has been dazed, sometimes with vacant eyes. She doesn't react when played with, and even when she does, the response is very slow. She has a special mouse-like odor all over her body and in her urine, which is getting worse. She has developed some eczema and very dry skin. She has been crying and restless. What is the illness?Doctor's answer:
Phenylketonuria is a congenital enzyme deficiency. It causes the corresponding substances in a baby's body to accumulate due to the inability to metabolize them normally. Over time, it can affect the baby's intelligence and growth and development. In the early stages, there may be no symptoms. Therefore, once diagnosed, it is crucial to seek medical attention as soon as possible. Long-term use of special formula is recommended. It is advisable to undergo a detailed examination at a regular and professional hospital before starting treatment. Pay attention to a light diet.