Glycogen storage diseases Support Group

Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

There are nine diseases that are commonly considered to be glycogen storage diseases:

glucose-6-phosphatase deficiency, von Gierke's disease
acid maltase deficiency, Pompe's disease
glycogen debrancher deficiency, Cori's disease or Forbe's disease
glycogen branching enzyme deficiency, Andersen disease
muscle glycogen phosphorylase deficiency, McArdle disease
liver phosphorylase deficiency, Hers's disease
muscle phosphofructokinase deficiency, Tarui's disease
phosphorylase kinase deficiency
glucose transporter deficiency, Fanconi-Bickel disease