What inherited condition results from the absence of UDP-glucuronyl transferase?

What inherited condition results from the absence of UDP-glucuronyl transferase?

• A. Dubin-Johnson syndrome
• B. Crigler-Najjar syndrome
• C. Gilbert's syndrome
• D. Biliary atresia

Answer: (B)

The condition that results from the absence of UDP-glucuronyl transferase is Crigler-Najjar syndrome. This inherited disorder is characterized by a severe impairment in the metabolism of bilirubin due to the deficiency of this specific enzyme, which is crucial for the conjugation of bilirubin to make it water-soluble for excretion. Without sufficient enzyme activity, unconjugated bilirubin accumulates in the blood, leading to jaundice and other complications. Crigler-Najjar syndrome has two types: Type I, where there is a complete absence of the enzyme, and Type II, where there is partial activity. Type I is associated with more severe symptoms and requires treatment such as phototherapy or liver transplantation in extreme cases. In contrast, Dubin-Johnson syndrome and Gilbert's syndrome involve different mechanisms of bilirubin metabolism. Dubin-Johnson syndrome involves a defect in the excretion of conjugated bilirubin from the liver into the bile, while Gilbert's syndrome involves a mild reduction in UDP-glucuronyl transferase activity but does not result in the complete absence of the enzyme. Biliary atresia is a congenital condition that affects the bile ducts and is not related to the enzyme deficiency of UDP-glucuron

The condition that results from the absence of UDP-glucuronyl transferase is Crigler-Najjar syndrome. This inherited disorder is characterized by a severe impairment in the metabolism of bilirubin due to the deficiency of this specific enzyme, which is crucial for the conjugation of bilirubin to make it water-soluble for excretion. Without sufficient enzyme activity, unconjugated bilirubin accumulates in the blood, leading to jaundice and other complications.

Crigler-Najjar syndrome has two types: Type I, where there is a complete absence of the enzyme, and Type II, where there is partial activity. Type I is associated with more severe symptoms and requires treatment such as phototherapy or liver transplantation in extreme cases.

In contrast, Dubin-Johnson syndrome and Gilbert's syndrome involve different mechanisms of bilirubin metabolism. Dubin-Johnson syndrome involves a defect in the excretion of conjugated bilirubin from the liver into the bile, while Gilbert's syndrome involves a mild reduction in UDP-glucuronyl transferase activity but does not result in the complete absence of the enzyme. Biliary atresia is a congenital condition that affects the bile ducts and is not related to the enzyme deficiency of UDP-glucuron