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Mucolipidosis Type IV
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Mucolipidosis Type IV

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Questions and Answers

What is the cause of Mucolipidosis type IV?

  • Mutations in the MCOLN4 gene
  • Mutations in the MCOLN3 gene
  • Mutations in the MCOLN2 gene
  • Mutations in the MCOLN1 gene (correct)

    • What is a common symptom of Mucolipidosis type IV?

  • Hepatic encephalopathy
  • Corneal opacity (correct)
  • Hyperthyroidism
  • Pulmonary embolism

    • What is the result of many of the known mutations in MCOLN1?

  • Expression of mutated mucolipin1
  • Increased expression of mucolipin1
  • No expression of mucolipin1 (correct)
  • Normal expression of mucolipin1

    • What is the physiological role of the protein product of the MCOLN1 gene?

    <p>The role is disputed and the ion it transports is unknown</p> Signup and view all the answers

    What is the carrier frequency of severe mutations in the Ashkenazi Jewish population?

    <p>1:90 to 1:100</p> Signup and view all the answers

    What is the effect of achlorhydria in patients with Mucolipidosis type IV?

    <p>Results in an increase in blood gastrin levels</p> Signup and view all the answers

    What is the recommended diagnosis for mucolipidosis type IV?

    <p>Genetic testing and Gastrin blood test</p> Signup and view all the answers

    Where is mucolipin1 thought to be localized?

    <p>Endosomes</p> Signup and view all the answers

    What is the treatment approach for mucolipidosis type IV?

    <p>There is no specific treatment</p> Signup and view all the answers

    What is a characteristic feature of affected cells in ML IV?

    <p>Accumulation of auto-fluorescent vacuoles</p> Signup and view all the answers

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