Enzyme Deficiency Causes Glycogen Storage Diseases, Glycogen Storage Disease Symptoms

A shortage of certain enzymes cause a metabolism issue with the making or breaking down of glycogen.  As a consequence, glycogen builds up in your liver and/or muscles.

Glycogen storage diseases are inherited metabolic disorders caused by an enzyme deficiency.  Mostly brought to you via a contribution from both parents.

Therefore, you aren’t contagious if you have a glycogen storage disease.  And the occurrence of glycogen storage diseases is rare.

Glycogen storage diseases are classified into types based on a deficiency of a particular enzyme.  The main types are:

  • Type I (von Gierke disease) ~ glucose-6-phosphate deficiency
  • Type II (Pompe’s disease) ~ acid maltase deficiency
  • Type III (Cori’s disease) ~ glycogen debrancher enzyme deficiency
  • Type IV (Andersen’s disease) ~ branching enzyme deficiency
  • Type V (McArdle’s disease) ~  muscle phosphorylase deficiency
  • Type VI (Hers’ disease) ~ liver phosphorylase deficiency
  • Type VII (Tarui’s disease) ~ muscle phosphofructokinase deficiency
  • Type VIII ~ liver phosphorylase kinase deficiency
  • Type IX ~ phosphorylase kinase deficiency
  • Type 0 ~ glycogen synthase deficiency

Type I is the most common glycogen storage disease.

Primarily, glycogen is stored in your liver or muscles.  As such, symptoms of a glycogen storage disease typically affect their functioning.

Glycogen storage disease symptoms depend on which enzyme is deficient.  This is just a range of symptoms involved with various glycogen storage diseases:

The combination of your symptoms is specific to which glycogen storage related enzyme is scarce.

For sweeping health coverage of glycogen storage diseases visit The Association for Glycogen Storage Disease website.

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