Gaucher's Disease and Neimann-Pick Disease Quiz

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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?

Neutrophils and monocytes Signup and view all the answers

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

Alius-Grignaschi Anomaly Signup and view all the answers

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

CHS1 LYST gene mutation Signup and view all the answers

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

MPO enzyme absence in Eosinophils Signup and view all the answers

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

Tay Sach Syndrome Signup and view all the answers

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

Severe recurrent life-threatening bacterial infections Signup and view all the answers

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

Regulates lysosomal development in neutrophils Signup and view all the answers

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?

Which of the following is a clinical manifestation of CHS1 LYST gene mutation?

What is the role of MPO in microbial destruction?

In which type of cells do patients with CHS1 LYST gene mutation exhibit abnormal lysosomal development?

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

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

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

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

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

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

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