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Glycogen Storage Disease Type VII

Abstract

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Synonyms of Glycogen Storage Disease Type VII

  • GSD VII
  • Muscle Phosphofructokinase Deficiency
  • PFKM Deficiency
  • Tarui Disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type VII (GSD VII) is characterized by weakness, pain and stiffness during exercise. GSD VII is caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energy available to muscles during exercise. GSD VII is inherited as an autosomal recessive genetic disorder.

Organizations related to Glycogen Storage Disease Type VII

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