Glycogen Storage Diseases Overview
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Questions and Answers

What enzyme is deficient in von Gierke's disease?

  • glucose-6-phosphatase (correct)
  • muscle glycogen phosphorylase
  • glycogen branching enzyme
  • acid maltase
  • Which glycogen storage disease is associated with acid maltase deficiency?

  • Hers' disease
  • Cori's disease
  • Pompe's disease (correct)
  • Andersen disease
  • In Cori's disease, which enzyme is lacking?

  • muscle phosphofructokinase
  • liver glycogen phosphorylase
  • glycogen debrancher (correct)
  • muscle glycogen phosphorylase
  • Andersen disease is characterized by a deficiency in which enzyme?

    <p>glycogen branching enzyme</p> Signup and view all the answers

    Which glycogen storage disease is linked to deficiency of muscle phosphofructokinase?

    <p>Tarui's disease</p> Signup and view all the answers

    Which glycogen storage disease is associated with liver glycogen phosphorylase deficiency?

    <p>Hers' disease</p> Signup and view all the answers

    Which enzyme deficiency is found in Pompe's disease?

    <p>acid maltase</p> Signup and view all the answers

    What is the enzymatic deficiency in McArdle disease?

    <p>muscle glycogen phosphorylase</p> Signup and view all the answers

    Cori's disease results from a deficiency in which enzyme?

    <p>glycogen debrancher</p> Signup and view all the answers

    Andersen disease is linked to a deficiency in which enzyme responsible for glycogen metabolism?

    <p>glycogen branching enzyme</p> Signup and view all the answers

    Which of the following diseases is associated with a defect in the glycogen branching enzyme?

    <p>Andersen disease</p> Signup and view all the answers

    What type of glycogen storage disease results from a deficiency in muscle glycogen phosphorylase?

    <p>McArdle disease</p> Signup and view all the answers

    Which glycogen storage disease is linked to a deficiency in acid maltase?

    <p>Pompe's disease</p> Signup and view all the answers

    In which glycogen storage disease does the deficiency of liver glycogen phosphorylase occur?

    <p>Hers' disease</p> Signup and view all the answers

    Tarui's disease is caused by a deficiency in which enzyme?

    <p>Muscle phosphofructokinase</p> Signup and view all the answers

    Study Notes

    Glycogen Storage Diseases

    • Glycogen storage diseases are a group of inherited metabolic disorders
    • These diseases involve deficiencies in enzymes responsible for glycogen metabolism
    • Deficiencies in these enzymes lead to the accumulation of glycogen in various tissues
    • This accumulation causes a range of symptoms and complications depending on the specific enzyme deficiency.

    Types of Glycogen Storage Diseases

    • Type I (von Gierke's disease): Deficiency in glucose-6-phosphatase
    • Type II (Pompe's disease): Deficiency in acid maltase
    • Type III (Cori's disease): Deficiency in glycogen debranching enzyme
    • Type IV (Andersen's disease): Deficiency in glycogen branching enzyme
    • Type V (McArdle's disease): Deficiency in muscle glycogen phosphorylase
    • Type VI (Hers' disease): Deficiency in liver glycogen phosphorylase
    • Type VII (Tarui's disease): Deficiency in muscle phosphofructokinase

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    Description

    This quiz covers glycogen storage diseases, a group of inherited metabolic disorders caused by enzyme deficiencies in glycogen metabolism. Each type of disease leads to specific symptoms based on the enzyme affected. Test your knowledge on the various types and their implications.

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