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 Phosphoglucomutase is inhibited then Glucose 1 phosphate and then UDP-glucose and then finally UDP-glucoronate production is low.This UDP-glucoronate is the conjugating molecule that conjugates water insoluble bilirubin coming from the breakdown of Haemoglobin(RBC) and form water soluble bilirubin.But when there is deficiency of phosphoglucomutase enzyme then whole process will be stop. As a result,water insoluble bilirubin is not converted into water soluble bilirubin .so this unconjugated bilirubin is move to the blood and due its high concentration, it is stored beneath skin and cornea of eye causing the yellowness called Jaundice(icterus)
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 Phosphoglucomutase is inhibited then Glucose 1 phosphate and then UDP-glucose and then finally UDP-glucoronate production is low.This UDP-glucoronate is the conjugating molecule that conjugates water insoluble bilirubin coming from the breakdown of Haemoglobin(RBC) and form water soluble bilirubin.But when there is deficiency of phosphoglucomutase enzyme then whole process will be stop. As a result,water insoluble bilirubin is not converted into water soluble bilirubin .so this unconjugated bilirubin is move to the blood and due its high concentration, it is stored beneath skin and cornea of eye causing the yellowness called Jaundice(icterus)
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