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The GSD variants

There are around 16 variants of GSD plus sub-variants, making about 25 in total. They are classified by a number and by the name of the defective enzyme, and sometimes by the name of the doctor who first described the condition.

(As an example: GSD1, a defect in the enzyme glucose-6-phosphatase, is also known as Von Gierke disease. It is subdivided into 1a and 1b.)

We provide information on ten of the GSDs and you can follow the links on the right to read about them. 

Note that GSD8 has been reclassified as a sub-variant of GSD6. The more recently discovered GSDs, 10 to 15, have very few diagnosed cases and we don’t yet have much information on them.

E

GSD0

Liver and muscle forms

E

GSD1 - Von Gierke disease

Liver

E

GSD2 - Pompe disease

Neuromuscular

E

GSD3 - Cori disease

Liver, except two sub types also involve muscle

E

GSD4 - Andersen disease

Liver and muscle forms

E

GSD5 - McArdle disease

Skeletal muscle

E

GSD6 - Hers disease

Liver

E

GSD7 - Tarui disease

Skeletal muscle

E

GSD9

Liver and muscle forms

E

Lafora disease

Affects cells throughout the body