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Disorder of glycogen metabolism

rare

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.

Identifiers
MONDO:0002412 Orphanet:79201
Part of
Inborn carbohydrate metabolic disorderInborn disorder of energy metabolism
Also known as
glycogen storage disease · glycogen storage disorder · glycogenoses · glycogenosis · GSD

Subtypes

All diseases Rare only
Disease Subtypes
  1. Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292 GBE1 8
  2. Glycogen storage disease I MONDO:0002413 4
  3. Glycogen storage disease IX MONDO:0700291 4
  4. GYG1-related disorder of glycogen metabolism MONDO:0100314 GYG1 2
  5. Lafora disease MONDO:0009697 2
  6. Glycogen storage disease II MONDO:0009290 GAA 2
  7. Glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0020693 2
  8. Glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0016527 1
  9. Danon disease MONDO:0010281 LAMP2
  10. Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0017992
  11. Glycogen storage disease III MONDO:0009291 AGL
  12. Glycogen storage disease IXd MONDO:0010362 PHKA1
  13. Glycogen storage disease V MONDO:0009293 PYGM
  14. Glycogen storage disease VI MONDO:0009294 PYGL
  15. Glycogen storage disease VII MONDO:0009295 PFKM
  16. Glycogen storage disease due to GLUT2 deficiency MONDO:0009216 SLC2A2
  17. Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0013047 LDHA
  18. Glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0012693 GYS1
  19. Glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046 ENO3
  20. Glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0010392 PGK1
  21. Glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009865 PGAM2
  22. Glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0009414 GYS2
  23. Lethal congenital glycogen storage disease of heart MONDO:0009867
  24. Polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389 RBCK1

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