Patient's question:
The baby has been drowsy since birth, sometimes with vacant eyes. When played with, she shows no reaction, or if she does, it is very slow. Her whole body and urine have a special mouse-like odor, which is becoming increasingly severe. She has developed some eczema, with very dry skin. She has been crying and fidgeting constantly. What illness could this be?Doctor's answer:
Phenylketonuria is a congenital enzyme deficiency that causes the corresponding substances in a baby's body to accumulate due to abnormal metabolism, gradually affecting the baby's intelligence and growth and development. In the early stages, there may be no symptoms, so once diagnosed, it is essential to seek medical attention as soon as possible. Long-term use of special formula is recommended. It is advisable to go to a regular and professional hospital for a detailed examination before treatment. Pay attention to a light diet.