Patient's question:
My baby is a premature child, and I have been very worried about the child's condition from the beginning. Recently, the child has appeared with this series of conditions, and I am also very worried, afraid that the child will become worse. Could it be that the suspicion of galactosemia in this infant can be resolved?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.Advice: This cannot completely rule out the 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.