Mucolipidosis II
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Questions and Answers

Which gene mutation causes I-cell disease?

  • GNPTAC
  • GNPTAA
  • GNPTAB (correct)
  • GNPTAD

    • What are the hallmark features of I-cell disease?

  • Skeletal abnormalities
  • Joint stiffness
  • Facial dysmorphism
  • All of the above (correct)

    • What is the primary focus of treatment for I-cell disease?

  • Managing symptoms (correct)
  • Preventing disease progression
  • Curing the disease
  • Improving organ function

    • Which of the following is NOT a symptom of I-cell disease?

    <p>Normal intellectual development</p> Signup and view all the answers

    What causes the dysfunction of enzymes in I-cell disease?

    <p>Mutations in the GNPTAB gene</p> Signup and view all the answers

    What is the prognosis for individuals with I-cell disease?

    <p>Progressive and life-limiting</p> Signup and view all the answers

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