Patient's question:
What causes galactosemia? My daughter was born over a month ago and has developed jaundice and abdominal pain due to galactosemia, accompanied by occasional vomiting. Neither my husband nor I have this condition, and there is no history of it in our family. Why did our child develop galactosemia?The help I hope to receive: What causes galactosemia?
Doctor's answer:
The recurrence of galactosemia is due to a deficiency in galactose-1-phosphate uridyltransferase or the presence of germline genetic factors. The specific causes of galactosemia are as follows: 1-phosphogalactose is cytotoxic and inhibits multiple enzymes in the glycolytic metabolic pathway. When the activity of glucose-1-phosphate mutase is inhibited, it cannot convert 1-phosphogalactose into 6-phosphogluconate, disrupting glycogen breakdown. High concentrations of 1-phosphogalactose also inhibit gluconeogenesis, leading to hypoglycemic symptoms in clinical diagnosis.