Question:
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: GLUT-2 is a glucose transporter expressed in pancreatic beta-cells, hepatocytes, and the epithelial cells of the kidney and intestine. It acts as a high-capacity, low-affinity glucose sensor and transporter.
Step 2: A loss-of-function mutation in the GLUT-2 gene causes Fanconi-Bickel syndrome. This disorder is characterised by proximal renal tubular dysfunction, impaired glucose homeostasis with fasting hypoglycaemia and postprandial hyperglycaemia, and hepatomegaly due to glycogen accumulation.
Step 3: Why the others are wrong. Dandy-Walker syndrome is a posterior fossa malformation, Beckwith-Wiedemann syndrome is an overgrowth disorder linked to chromosome 11p15, and Menkes disease is a copper transport defect from an ATP7A mutation. None involves GLUT-2.
Hence GLUT-2 mutation causes Fanconi-Bickel syndrome.
Step 2: A loss-of-function mutation in the GLUT-2 gene causes Fanconi-Bickel syndrome. This disorder is characterised by proximal renal tubular dysfunction, impaired glucose homeostasis with fasting hypoglycaemia and postprandial hyperglycaemia, and hepatomegaly due to glycogen accumulation.
Step 3: Why the others are wrong. Dandy-Walker syndrome is a posterior fossa malformation, Beckwith-Wiedemann syndrome is an overgrowth disorder linked to chromosome 11p15, and Menkes disease is a copper transport defect from an ATP7A mutation. None involves GLUT-2.
Hence GLUT-2 mutation causes Fanconi-Bickel syndrome.
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