NExt pathology: Glycogen storage disease NEET MDS 2024

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Glycogen is a complex sugar that serves as a storage form of glucose in the body. When there's a deficiency in one of the enzymes responsible for glycogen synthesis or breakdown, it leads to abnormal accumulation or breakdown of glycogen in tissues.

Here are a few key types of GSDs, each associated with a specific enzyme deficiency:

1. GSD Type I (von Gierke disease): Caused by a deficiency of glucose-6-phosphatase, which is essential for releasing glucose from glycogen. This results in the accumulation of glycogen in the liver and kidneys, leading to an enlarged liver (hepatomegaly), hypoglycemia, and growth retardation.

2. GSD Type II (Pompe disease): Caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in various tissues, particularly muscles. This can result in muscle weakness, respiratory difficulties, and heart problems.

3. GSD Type III (Cori disease): Caused by a deficiency of the enzyme glycogen debranching enzyme. Symptoms can include an enlarged liver, muscle weakness, and hypoglycemia.

4. GSD Type IV (Andersen disease): Caused by a deficiency of the enzyme glycogen branching enzyme. It leads to abnormal glycogen structure and accumulation in the liver and other tissues, causing liver failure.

5. GSD Type V (McArdle disease): Caused by a deficiency of the enzyme muscle glycogen phosphorylase. This primarily affects skeletal muscles, leading to exercise intolerance, muscle cramps, and fatigue.

6. GSD Type VI (Hers disease): Caused by a deficiency of liver phosphorylase. It results in an enlarged liver and low blood sugar levels.

Management of GSDs often involves dietary modifications, including frequent meals to prevent hypoglycemia, and, in some cases, special formulas. Enzyme replacement therapy and other targeted treatments may be options for certain types of GSDs.

It's crucial for individuals with GSDs to work closely with healthcare professionals to monitor and manage their condition effectively. The specific symptoms and severity can vary widely among different types of GSDs and even within individuals with the same type.

Sure, here are 10 multiple-choice questions (MCQs) along with their answers related to Glycogen Storage Diseases (GSDs):

1. Which enzyme deficiency is associated with Glycogen Storage Disease Type I (von Gierke disease)?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glucose-6-phosphatase

   - D) Glycogen phosphorylase

   Answer: C) Glucose-6-phosphatase

2. Pompe disease, a type of Glycogen Storage Disease, is caused by a deficiency of which enzyme?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glucose-6-phosphatase

   - D) Glycogen phosphorylase

   Answer: B) Acid alpha-glucosidase

3. What is the characteristic symptom of Glycogen Storage Disease Type II (Pompe disease)?

   - A) Enlarged liver

   - B) Hypoglycemia

   - C) Muscle weakness

   - D) Liver failure

   Answer: C) Muscle weakness

4. GSD Type III (Cori disease) is associated with a deficiency in which enzyme?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glycogen branching enzyme

   - D) Liver phosphorylase

   Answer: A) Glycogen debranching enzyme

5. McArdle disease, a type of Glycogen Storage Disease, is caused by a deficiency of which enzyme?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glycogen phosphorylase

   - D) Muscle glycogen phosphorylase

   Answer: D) Muscle glycogen phosphorylase

6. Which type of Glycogen Storage Disease involves abnormal glycogen branching enzyme?

   - A) Type I (von Gierke disease)

   - B) Type II (Pompe disease)

   - C) Type III (Cori disease)

   - D) Type IV (Andersen disease)

   Answer: D) Type IV (Andersen disease)

7. Hers disease, a subtype of Glycogen Storage Disease, is associated with a deficiency in which enzyme?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glycogen phosphorylase

   - D) Liver phosphorylase

   Answer: D) Liver phosphorylase

8. What is a common symptom of Glycogen Storage Disease Type V (McArdle disease)?

   - A) Enlarged liver

   - B) Hypoglycemia

   - C) Muscle weakness

   - D) Exercise intolerance

   Answer: D) Exercise intolerance

9. GSD Type VI (Hers disease) is caused by a deficiency in which enzyme?

   - A) Glycogen debranching enzyme

   - B) Acid alpha-glucosidase

   - C) Glycogen branching enzyme

   - D) Liver phosphorylase

   Answer: D) Liver phosphorylase

10. Which enzyme replacement therapy may be considered as a treatment for some types of Glycogen Storage Diseases?

    - A) Insulin

    - B) Corticosteroids

    - C) Enzyme replacement therapy

    - D) Antibiotics

    Answer: C) Enzyme replacement therapy

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