Coriell Institute
Glycogen Storage Diseases  
Glycogen Storage Diseases Pathway Glycogen Storage Disease II Glycogen Storage Disease IV Glycogen Storage Disease VIII, X-linked; Glycogen Storage Disease IX Included Glycogen Storage Disease VI Glycogen Storage Disease V Glycogen Storage Disease III Glycogen Storage Disease I Glycogen Storage Disease Ib Glycogen Storage Disease VII
Clinical Disorder Gene
Symbol
Glycogen Storage Disease I; GSD IA G6PC
Glycogen Storage Disease Ib; GSD IB G6PT1
Glycogen Storage Disease II GAA
Glycogen Storage Disease III AGL
Glycogen Storage Disease IV GBE1
Glycogen Storage Disease V PYGM
Glycogen Storage Disease VI PYGL
Glycogen Storage Disease VII PFKM
Glycogen Storage Disease VIII, X-linked; Glycogen Storage Disease IX Included PHKA2
Legend:
The glycogen synthetic and degradation pathways involve a set of enzymes whose failure can lead to a group of diseases collectively known as glycogen storage diseases. The enzymes are found in the cytoplasm, the endoplasmic reticulum and the lysosome and many are specific to individual organs. In the diagram, the enzymes whose failure leads to the distinct glycogen storage disorders are underlined and clicking on them will show a list of samples in the NIGMS Repository. GSD Ia and Ib are the result of the glucose-6-P phosphatase and transporter, the failure to breakdown glycogen in the lysosome is the basis of GSD II, GSD III is due to a deficiency of the debranching enzyme, GSD IV is caused by a deficiency of the branching enzyme in the glycogen synthetic pathway, GSD V and GSD VI are due to deficiencies of glycogen phosphorylase in the glycogen breakdown pathway, GSD VII is due to a deficiency of phosphofructokinase and GSD VIII/GSD IX can is the consequence of defects in any of the four isozyme/subunits of the enzyme. By clicking on the symbol for the clinical disorder or enzymatic step in the diagram or the table, the list of the samples and the mutations in these samples appears. By clicking on the Gene Symbol a list of samples with characterized mutations appears.

References:
Amato, A.A. Sweet success--a treatment for McArdle's disease. N. Eng. J. Med. 26, 2481-2482.  Abstract
Chen, Y., Burchell, A. (1995). "Glycogen Storage Diseases." In The Metabolic and Molecular Bases of Inherited Disease(pp. 935-965), edited by Charles Scriver, Arthur Beaudet, William Sly and David Valle. New York: McGraw-Hill, Inc.

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