Galactosemia-Jaundice
How does Jaundice occur from Galactosemia? Source: Dr.Mungli Galactosemia is a metabolic disorder occur every on 1 out of 35000 due to the defect in GALT gene. It is the condition when a person have high amount of Galactose in blood. It is due to the deficiency of “Galactose 1-phosphate uridyltransferase (GALT)” which is used in Galactose metabolism. From above image , we can clearly observed that GALT is necessary for Galactose metabolism. So, if GALT is decrease ,Galctose 1 phosphate will be increases and ultimately Galactose 1 phosphate is trapped in ADP as 1st step of galactose metabolism is ATP requiring step. If there is high amount of Galactose 1 phosphate, it will inhibit the phosphoglucomutase which is important enzyme to make water soluble conjugate bilirubin. When the Phospho