Question
Diagnosed with an inherited metabolic disease at seven months old, now five weeks old, cannot walk, understands but cannot express, cannot control eating, drinking, defecating, and sleeping on their own, sometimes vomiting, and has a congenital heart chamber septal defect, developmental delay. Could you please specify which type of disease it is? Please provide a detailed description of the symptoms and test results.
Answer
Based on the information provided, the child may have a type of inherited metabolic disease that affects the body’s metabolic processes, leading to a variety of symptoms including developmental delay, neurological issues, and gastrointestinal symptoms. Since the child also has a congenital heart chamber septal defect, it is recommended to undergo a comprehensive inherited metabolic disease screening, including blood biochemical tests and urine metabolite analysis, to determine the cause. Additionally, an assessment and treatment for the heart defect are also needed. Please consult a professional doctor for detailed diagnosis and treatment plans.