Full 2L QBank
Pathology Bilirubin Metabolism e7e47484

Complete deficiency of UDP glucoronyl transferase (UGT) is seen in:

A
Criggler - Najjar Type I
B
Criggler - Najjar Type II
C
Gilbe's syndrome
D
Dubin-Johnson syndrome
High-Yield Explanation
UGT1A1, generated from the UGT1A1 gene, is responsible for bilirubin glucuronidation. Mutations of UGT1A1 cause hereditary unconjugated hyperbilirubinemias: Crigler-Najjar type 1 is caused by severe UGT1A1 deficiency and is fatal around the time of bih, Crigler-Najjar type II and Gilbe syndrome there is some UGT1A1 activity and the phenotypes are much milder

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