Gaucher's Disease and Neimann-Pick Disease Quiz
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Questions and Answers

Which enzyme deficiency leads to the main problem of absence of MPO enzyme in neutrophils and monocytes?

  • CHS1 LYST gene mutation
  • MPO deficiency (correct)
  • Platelet-dense bodies deficiency
  • Ganglioside accumulation
  • Which of the following is a clinical manifestation of CHS1 LYST gene mutation?

  • Lysosomal fusion with phagosomes
  • Partial albinism (correct)
  • Impaired chemotaxis
  • Frequent infections
  • What is the role of MPO in microbial destruction?

  • Mediates platelet aggregation
  • Enhances chemotaxis in neutrophils
  • Facilitates oxidative destruction of microbes (correct)
  • Promotes lysosomal development
  • In which type of cells do patients with CHS1 LYST gene mutation exhibit abnormal lysosomal development?

    <p>Neutrophils and monocytes</p> Signup and view all the answers

    Which disease is characterized by an absence or reduced number of platelet-dense bodies?

    <p>Alius-Grignaschi Anomaly</p> Signup and view all the answers

    Which condition results in delayed killing of ingested bacteria in neutrophils?

    <p>CHS1 LYST gene mutation</p> Signup and view all the answers

    What is the main problem associated with Alius-Grignaschi Anomaly?

    <p>MPO enzyme absence in Eosinophils</p> Signup and view all the answers

    Which disease is caused by the deficiency of hexosaminidase A and leads to ganglioside accumulation in nerve cells?

    <p>Tay Sach Syndrome</p> Signup and view all the answers

    What are the clinical manifestations associated with patients suffering from CHS1 LYST gene mutation?

    <p>Severe recurrent life-threatening bacterial infections</p> Signup and view all the answers

    What is the role of the protein encoded by the CHS1 LYST gene?

    <p>Regulates lysosomal development in neutrophils</p> Signup and view all the answers

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