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I-cell disease is caused by

Question and options

I-cell disease is caused by
  1. Lack of lysosomal enzymes
  2. Imbalance in chloride and sodium
  3. Mutation in LDL receptor
  4. Uncontrolled autophagy

Answer and explanation

Correct answer: A - Lack of lysosomal enzymes
I-cell disease: a defective phosphotransferase prevents mannose-6-phosphate tagging, so lysosomal enzymes are secreted instead of reaching lysosomes; lysosomes lack their enzymes. An imbalance of chloride and sodium transport is the defect in cystic fibrosis, and a mutated LDL receptor causes familial hypercholesterolaemia.

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