Types of Mucolipidosis and Genetic Causes
6 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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

    More Like This

    Types of Therapy Quiz
    25 questions

    Types of Therapy Quiz

    WellEducatedCliff avatar
    WellEducatedCliff
    Mucolipidosis Type IV
    10 questions
    Use Quizgecko on...
    Browser
    Browser