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Types of Mucolipidosis and Genetic Causes
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Types of Mucolipidosis and Genetic Causes

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Questions and Answers

Which lysosomal storage disease is caused by a defect in the protein recognition domain of UDP-NAcGlcN phosphotransferase?

  • Hunter Syndrome
  • Pseudo-Hurler Disease (correct)
  • Hurler Syndrome
  • Gargoylism
  • Which lysosomal storage disease is characterized by normal intelligence, skeletal abnormalities, coarse facial features, short stature, carpel tunnel syndrome, corneal clouding, and aortic valve disease?

  • Hunter Syndrome
  • Pseudo-Hurler Disease (correct)
  • Gargoylism
  • Hurler Syndrome
  • Which enzyme deficiency leads to the buildup of glycosaminoglycans in Hurler syndrome?

  • Alpha-L iduronidase (correct)
  • Glycosaminoglycanase
  • Iduronate-2-sulfatase
  • UDP-NAcGlcN phosphotransferase
  • Which lysosomal storage disease is characterized by normal intelligence, skeletal abnormalities, coarse facial features, short stature, carpel tunnel syndrome, corneal clouding, and aortic valve disease?

    <p>Pseudo-Hurler Disease</p> Signup and view all the answers

    Which lysosomal storage disease is caused by a defect in the protein recognition domain of UDP-NAcGlcN phosphotransferase?

    <p>Pseudo-Hurler Disease</p> Signup and view all the answers

    Which enzyme deficiency leads to the buildup of glycosaminoglycans in Hurler syndrome?

    <p>alpha-L iduronidase</p> Signup and view all the answers

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