Question:hard
Mutation in GLUT-2 causes:
Mutation in GLUT-2 causes:
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The liver-and-kidney glucose transporter defect gives hepatomegaly plus renal tubulopathy.
Updated On: Jun 24, 2026
- Dandy-Walker syndrome
- Fanconi-Bickel syndrome
- Beckwith syndrome
- Menke's disease
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The Correct Option is B
Solution and Explanation
Step 1: Start with the function of the transporter. GLUT-2 moves glucose in and out of the liver, the insulin-secreting beta-cells, and the absorptive cells of gut and kidney tubules. It is the bidirectional transporter that links blood glucose to these key organs.
Step 2: When GLUT-2 is mutated and non-functional, glucose handling fails at all these sites. The result is Fanconi-Bickel syndrome, recognised by an enlarged liver loaded with glycogen, a leaky proximal renal tubule producing glucosuria and phosphaturia, and a disturbed pattern of blood sugar.
Step 3: Discard the distractors. Dandy-Walker is a cerebellar and fourth-ventricle malformation, Beckwith-Wiedemann is a genomic-imprinting overgrowth syndrome, and Menkes disease arises from defective copper transport. None of them maps to GLUT-2.
\[\boxed{\text{Fanconi-Bickel syndrome}}\]
Step 2: When GLUT-2 is mutated and non-functional, glucose handling fails at all these sites. The result is Fanconi-Bickel syndrome, recognised by an enlarged liver loaded with glycogen, a leaky proximal renal tubule producing glucosuria and phosphaturia, and a disturbed pattern of blood sugar.
Step 3: Discard the distractors. Dandy-Walker is a cerebellar and fourth-ventricle malformation, Beckwith-Wiedemann is a genomic-imprinting overgrowth syndrome, and Menkes disease arises from defective copper transport. None of them maps to GLUT-2.
\[\boxed{\text{Fanconi-Bickel syndrome}}\]
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