Question

For a clinical condition where there is a defect in UDP-glucuronyl transferase activity describe the expected bilirubin assay results.

Answer 1

ANS :Due to Gilbert's syndrome mutation in the UGT1A1 gene,that is  results in decresing in  activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme

as we know that the newborn is generally suffer with jaundice(hyperbilirubinemia.when mother doing breast feeding to newborn there is increase in bilirubin .it reconize as afactor for development of neontal hyperbilirubin.this under go metabolism by UDP glucuronosyltranferase UGT ,with water solube glucoridine .here is several factor that may affet the breast feeding with induced jaundice like ,gestation ,dehydration ,weightloss .with deficiecy of UGT1A1 ,that express or cause of BMJ .strongly believ that bilirubin is meatbolized in liver.in recently research ,extrahepatic tissue like small intestine and skin are contibuting to bilirubin glucuronidine during neonatal period of time .