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Glycogen Storage diseases
Background
The term glycogen storage disease (GSD) refers to a number of inherited metabolic conditions where genetic enzyme deficiencies cause excessive accumulation of glycogen within the body. Each type of GSD is most commonly referred to by a number, although the disorders are also referred to by eponyms or according to the enzyme that is deficient.
| enzyme deficiency | number | eponym |
|---|---|---|
| glucose-6-phosphatase | I | von Gierke disease |
| alpha 1,4-glucosidase (acid maltase) | II | Pompe disease |
| debrancher (amylo-1,6 glucosidase) | III | Cori disease |
| brancher | IV | Andersen disease |
| muscle phosphorylase | V | McArdle disease |
| liver phosphorylase | VI | Hers disease |
| phosphofructokinase | VII | Tarui disease |
| phosphorylase b kinase | IX |
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