Can the suspicion of galactosemia in this infant be resolved? I urgently request.

Patient's question:

No

Doctor's answer:

Disease Analysis: A disease caused by a congenital genetic defect, where the defective gene responsible for this condition primarily encodes 1-phosphogalactose-uridine nucleotide transferase. The defect in this enzyme leads to the accumulation of galactose and its redox products in the body, resulting in severe symptoms such as hepatomegaly and cataracts.
Recommendation: It cannot completely rule out this possibility for you. It is recommended to seek further review at a higher-level hospital for a more definitive diagnosis, as there is currently a lack of strong evidence.