Rare Genetic Disorders Quiz
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Questions and Answers

Which disease is characterized by a deficiency of the enzyme iduronate sulfatase?

  • Hurler's syndrome
  • Hunter's syndrome (correct)
  • I-cell disease
  • Gaucher's disease

Which condition is associated with coarse facial features, skeletal abnormalities, and progressive mental deterioration?

  • Hunter's syndrome
  • I-cell disease
  • Hurler's syndrome (correct)
  • Tay-Sachs disease

Which disorder is a lysosomal storage disease caused by a defect in the enzyme N-acetylglucosaminyl-1-phosphotransferase?

  • I-cell disease (correct)
  • Pompe disease
  • Hurler's syndrome
  • Hunter's syndrome

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