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Glycogen Storage Disease Type V

Abstract

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Synonyms of Glycogen Storage Disease Type V

  • Glycogenosis Type V
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type V
  • GSD V
  • McArdle Disease
  • Myophosphorylase Deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Glycogen storage disease type V (McArdle Disease or GSD-V) is one of several inherited glycogen storage diseases all of which are caused by failures of specific enzymes required for the storage of energy-supplying glycogen. In the case of GSD-V, symptoms are caused by the lack of the crucial enzyme muscle phosphorylase (myophosphorylase). This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose) in muscle tissues. All of the glycogen storage diseases are characterized by the inability to break down glycogen, but in each case this occurs for a different reason. Unlike most of the other GSDs, type V has two autosomal recessive forms, a childhood-onset form and an adult-onset form. In addition, there is a much more rare autosomal dominant form of GSD-V. The clinical features of GSD-V are exercise intolerance, muscle cramping, and dark, burgundy-colored urine due to the presence of myoglobin (myoglobinuria).

Glycogen Storage Disease Type V Resources

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