Glycogen Metabolism and Storage Diseases

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What is McArdle disease?

An inherited disease resulting from mutations in the gene for the enzyme muscle phosphorylase.

What specific genetic changes lead to McArdle disease?

Changes (mutations) in the gene for the enzyme muscle phosphorylase.

Study Notes

Glycogen Metabolism

  • Glycogen metabolism involves the synthesis and degradation of glycogen in the body.

Structure of Glycogen

  • Glycogen is a complex carbohydrate composed of branched chains of glucose molecules.

Glycogen Synthesis

  • Glycogen synthesis is the process of creating glycogen from glucose molecules in the body.

Degradation of Glycogen

  • Glycogen degradation is the process of breaking down glycogen into glucose molecules to be used by the body.

Regulation of Glycogen Metabolism in Liver

  • The liver plays a crucial role in regulating glycogen metabolism in the body.

Regulation of Glycogen Synthesis and Degradation in Skeletal Muscle

  • Skeletal muscle also plays a key role in regulating glycogen synthesis and degradation.

Glycogen Storage Diseases

  • McArdle disease is an inherited disease caused by mutations in the gene for the enzyme muscle phosphorylase.
  • McArdle disease affects glycogen metabolism, leading to impaired muscle function and other symptoms.

This quiz covers the structure and metabolism of glycogen, including its synthesis and degradation in the liver and skeletal muscle, as well as glycogen storage diseases such as McArdle disease.

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