QuestionSBA
QuestionChoice
This is the correct answer. Gilbert's syndrome is an autosomal recessive disorder of bilirubin metabolism in the liver due to a defect in the UDP-glucuronosyltransferase 1 gene. It is a pre-hepatic cause of jaundice which presents with unconjugated hyperbilirubinemia and recurrent episodes of jaundice especially after a trigger such as febrile illnesses, fasting, menstruation, physical exertion and so forth. UDP-glucuronosyltransferase 1 is important for converting unconjugated to conjugated bilirubin (water-soluble), and a defect in the gene results in unconjugated hyperbilirubinemia and pre-hepatic jaundice.
10027411
a
UDP-glucuronosyltransferase
QuestionChoice
This is not the correct answer. Gilbert's syndrome is an autosomal recessive disorder of bilirubin metabolism in the liver due to a defect in the UDP-glucuronosyltransferase 1 gene. It is a pre-hepatic cause of jaundice which presents with unconjugated hyperbilirubinemia and recurrent episodes of jaundice, especially after certain triggers. On the other hand, a defect in the ATP7B gene is seen in Wilson disease, which is an autosomal recessive disorder with a characteristic copper-transporting P-type ATPase defect (ATP7B molecular defect) in 80% of cases.
10027413
c
ATP7B
QuestionChoice
This is not the correct answer. Gilbert's syndrome is an autosomal recessive disorder of bilirubin metabolism in the liver due to a defect in the UDP-glucuronosyltransferase 1 gene. It is a pre-hepatic cause of jaundice which presents with unconjugated hyperbilirubinemia and recurrent episodes of jaundice, especially after certain triggers. On the other hand, G6PD is the catalyst in the rate-limiting first step of the pentose phosphate pathway, and a deficiency can result in acute haemolytic anaemia.
10027414
d
glucose-6-phosphate dehydrogenase (G6PD)
QuestionChoice
This is not the correct answer. Gilbert's syndrome is an autosomal recessive disorder of bilirubin metabolism in the liver due to a defect in the UDP-glucuronosyltransferase 1 gene. It is a pre-hepatic cause of jaundice which presents with unconjugated hyperbilirubinemia and recurrent episodes of jaundice, especially after certain triggers. On the other hand, Congenital Adrenal Hyperplasia (CAH) is a group of inherited, autosomal recessive genetic disorders caused by enzyme defects in the adrenal cortex, which disrupts steroid hormone synthesis. The most common variant is a 21-hydroxylase deficiency.
10027412
b
21-hydroxylase
QuestionChoice
This is not the correct answer. Gilbert's syndrome is an autosomal recessive disorder of bilirubin metabolism in the liver due to a defect in the UDP-glucuronosyltransferase 1 gene. It is a pre-hepatic cause of jaundice which presents with unconjugated hyperbilirubinemia and recurrent episodes of jaundice, especially after certain triggers. On the other hand, Pyruvate kinase deficiency is an autosomal recessive non-spherocytic anaemia which can present with unconjugated hyperbilirubinaemia (pre-hepatic jaundice) and hepatosplenomegaly.
10027415
e
Pyruvate kinase
Concept
Chapter
2693
5823
Gilbert's syndrome
Topic
136
Gastroenterology
17880
Which of the following enzyme's activity is impaired in Gilbert's syndrome?
a