Question
What is galactosemia, and what are its causes? Why would my child have this disease without a family history?
Answer
Galactosemia is a genetic disorder primarily caused by a deficiency in galactose-1-phosphate uridylyltransferase, which leads to improper metabolism of galactose and triggers a series of symptoms. This condition may be due to a genetic defect or inherited from previous generations. The deficiency in galactose-1-phosphate uridylyltransferase results in the accumulation of excessive 1-phosphogalactose within cells. This substance inhibits various enzymes in the sugar metabolic process, particularly glucose phosphotransferase, thereby blocking the glycogenolysis process. Additionally, high concentrations of 1-phosphogalactose inhibit gluconeogenesis, leading to symptoms of hypoglycemia.