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| Glycogen storage disease Classification and external resources |
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| Glycogen | |
| ICD-10 | E74.0 |
| ICD-9 | 271.0 |
| MeSH | D006008 |
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.
Types
There are nine diseases that are commonly considered to be glycogen storage diseases. (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)
| Number | Enzyme deficiency | Eponym | Named for |
| GSD type I | glucose-6-phosphatase | von Gierke's disease | Edgar von Gierke |
| GSD type II | acid maltase | Pompe's disease | Johann Pompe |
| GSD type III | glycogen debrancher | Cori's disease or Forbe's disease | Carl Cori and Gerty Cori |
| GSD type IV | glycogen branching enzyme | Andersen disease | Dorothy Hansine Andersen |
| GSD type V | muscle glycogen phosphorylase | McArdle disease | Brian McArdle |
| GSD type VI | liver glycogen phosphorylase | Hers' disease | Henri G. Hers |
| GSD type VII | muscle phosphofructokinase | Tarui's disease | Seiichiro Tarui |
| GSD type VIII | (In the past, considered a distinct condition.[1] Now classified with VI.[2] Has been described as X-linked recessive.[3]) | ||
| GSD type IX | phosphorylase kinase, PHKA2 | - | - |
| GSD type X | (In the past, considered a distinct condition.[4][5] Now classified with VI.[2]) | ||
| GSD type XI | glucose transporter, GLUT2 | Fanconi-Bickel syndrome | Guido Fanconi and Horst Bickel |
| GSD type 0 | glycogen synthase | - | - |
References
- ^ Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. PMID 4508182.
- ^ a b "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto".
- ^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
- ^ Warren MF, Hamilton PB (January 1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. PMID 6940112.
- ^ Huff WE, Doerr JA, Hamilton PB (January 1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37 (1): 122–6. PMID 760630. PMC:243410.
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