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5C51.3 category

Glycogen storage disease

Definition

The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Inclusions

  • Dilated cardiomyopathy due to glycogen branching enzyme deficiency
  • Glycogen storage disease due to GLUT2 deficiency
  • Glycogen storage disease due to LAMP-2 deficiency
  • Glycogen storage disease due to aldolase A deficiency
  • Glycogen storage disease due to glycogen debranching enzyme deficiency
  • Glycogen storage disease due to glycogenin deficiency
  • Glycogen storage disease due to lactate dehydrogenase deficiency
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • Glycogen storage disease due to muscle beta-enolase deficiency
  • Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • Glycogen storage disease due to muscle pyruvate kinase deficiency
  • Glycogen storage disease due to phosphoglucomutase deficiency
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Also indexed as

Acid alpha-1,4-glucosidase deficiencyAcid maltase deficiencyAmylo-1,6-glucosidase deficiencyAmylopectinosisAndersen diseaseBickel-Fanconi diseaseCardiac glycogenosisCardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiencyCori diseaseCori-Forbes diseaseDanon diseaseDeficiency of exo-1,4-alpha-glucosidaseDeficiency of gamma-amylaseDeficiency of glucan 1,4-alpha-glucosidaseDeficiency of glucoamylaseDeficiency of glucoinvertaseDeficiency of glucosidosucraseDeficiency of maltaseDi Mauro diseaseDilated cardiomyopathy due to glycogen branching enzyme deficiencyFacilitated glucose transporter protein type 2 deficiencyFanconi-Bickel glycogenosisFanconi-Bickel syndromeForbes diseaseForbes glycogen storage diseaseGSD - [Glycogen storage disease]GSD due to lactate dehydrogenase deficiencyGSD due to muscle pyruvate kinase deficiencyGSD due to phosphoglycerate kinase 1 deficiencyGSD due to phosphorylase kinase deficiencyGSD type 0GSD type 0AGSD type 0BGSD type 1GSD type 10GSD type 11GSD type 12GSD type 13GSD type 14GSD type 15GSD type 1AGSD type 2GSD type 2BGSD type 3GSD type 5GSD type 6GSD type 6BGSD type 7GSD type 9BGSD type 9C - [glycogen storage disease type 9C]GSD- [Glycogen storage disease] type 4GSD1BGSD2, infantile onsetGSD6A - [glycogen storage disease type 6A]GSD8 - [glycogen storage disease type 8]GSD9 - [glycogen storage disease type 9]GSD9A - [glycogen storage disease type 9A]GSD9D - [glycogen storage disease type IXD]GSD9EGSD9FGlocogenosis type 15Glucose-6-phosphate dehydrogenase deficiencyGlycogen debranching deficiencyGlycogen storage diseaseGlycogen storage disease due to GLUT2 deficiencyGlycogen storage disease due to LAMP-2 deficiencyGlycogen storage disease due to acid alpha-1,4-glucosidase deficiency, infantile onsetGlycogen storage disease due to acid maltase deficiencyGlycogen storage disease due to acid maltase deficiency, adult onsetGlycogen storage disease due to acid maltase deficiency, infantile onsetGlycogen storage disease due to acid maltase deficiency, juvenile onsetGlycogen storage disease due to aldolase A deficiencyGlycogen storage disease due to branching-transferase deficiencyGlycogen storage disease due to glucose-6-phosphatase deficiencyGlycogen storage disease due to glucose-6-phosphate system deficiencyGlycogen storage disease due to glucose-6-phosphate translocase deficiencyGlycogen storage disease due to glucose-6-phosphate transport defectGlycogen storage disease due to glycogen debranching enzyme deficiencyGlycogen storage disease due to glycogen phosphorylase kinase deficiencyGlycogen storage disease due to glycogen synthase deficiencyGlycogen storage disease due to glycogenin deficiencyGlycogen storage disease due to heart glycogen phosphorylase kinase deficiencyGlycogen storage disease due to lactate dehydrogenase deficiencyGlycogen storage disease due to liver glycogen phosphorylase deficiencyGlycogen storage disease due to liver glycogen phosphorylase kinase deficiencyGlycogen storage disease due to liver glycogen synthase deficiencyGlycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiencyGlycogen storage disease due to muscle beta-enolase deficiencyGlycogen storage disease due to muscle glycogen phosphorylase deficiencyGlycogen storage disease due to muscle glycogen phosphorylase kinase deficiencyGlycogen storage disease due to muscle or heart glycogen synthase deficiencyGlycogen storage disease due to muscle phosphofructokinase deficiencyGlycogen storage disease due to muscle phosphoglycerate mutase deficiencyGlycogen storage disease due to muscle pyruvate kinase deficiencyGlycogen storage disease due to phosphoglucomutase deficiencyGlycogen storage disease due to phosphoglycerate kinase 1 deficiencyGlycogen storage disease of heartGlycogen storage disease type 0Glycogen storage disease type 0AGlycogen storage disease type 0BGlycogen storage disease type 1Glycogen storage disease type 10Glycogen storage disease type 11Glycogen storage disease type 12Glycogen storage disease type 13Glycogen storage disease type 14Glycogen storage disease type 15Glycogen storage disease type 1AGlycogen storage disease type 1BGlycogen storage disease type 2Glycogen storage disease type 2, infantile onsetGlycogen storage disease type 2BGlycogen storage disease type 3Glycogen storage disease type 4Glycogen storage disease type 5Glycogen storage disease type 6Glycogen storage disease type 6AGlycogen storage disease type 6BGlycogen storage disease type 7Glycogen storage disease type 8Glycogen storage disease type 9Glycogen storage disease type 9AGlycogen storage disease type 9BGlycogen storage disease type 9CGlycogen storage disease type 9DGlycogen storage disease type 9EGlycogen storage disease type 9FGlycogen storage disease type non-1AGlycogen storage liver diseaseGlycogenosisGlycogenosis due to lactate dehydrogenase deficiencyGlycogenosis due to liver phosphorylase deficiencyGlycogenosis due to muscle pyruvate kinase deficiencyGlycogenosis due to phosphoglycerate kinase 1 deficiencyGlycogenosis due to phosphorylase kinase deficiencyGlycogenosis type 0Glycogenosis type 0AGlycogenosis type 0BGlycogenosis type 1Glycogenosis type 10Glycogenosis type 11Glycogenosis type 12Glycogenosis type 13Glycogenosis type 14Glycogenosis type 1AGlycogenosis type 1BGlycogenosis type 2Glycogenosis type 2, infantile onsetGlycogenosis type 2BGlycogenosis type 3Glycogenosis type 4Glycogenosis type 5Glycogenosis type 6Glycogenosis type 6AGlycogenosis type 6BGlycogenosis type 7Glycogenosis type 8Glycogenosis type 9Glycogenosis type 9AGlycogenosis type 9BGlycogenosis type 9CGlycogenosis type 9DGlycogenosis type 9EGlycogenosis type 9FGlycogenosis type non-1AHERS - [hepatorenal glycogen storage disease]Hepatic phosphorylase kinase deficiencyHepatorenal glycogenosisHers diseaseInfantile Pompe diseaseLysosomal glycogen storage disease with normal acid maltase activityMcArdle diseaseMuscle phosphofructokinase deficiencyMyophosphorylase deficiencyPompe diseaseTarui diseaseVon Gierke diseasealpha-glucosidase deficiencyamylo-1,6-glucosidase deficiency disorderanaemia due to phosphofructo-aldolase deficiencybrancher deficiency glycogen storage diseasebranching enzyme deficiencybranching-transferase deficiency glycogenosiscardiomegalia glycogenica diffusadebrancher deficiency glycogen storage diseasedebrancher enzyme deficiencydeficiency of 1,4-alpha-glucan branching enzymedeficiency of 6-alpha-d-glucosidasedeficiency of amylo-(1,4,6)-transglycosylasedeficiency of amyloglucosidasedeficiency of g-6pddeficiency of glycogen synthetasedeficiency of hepatophosphorylasediffuse glycogenosisdilated cardiomyopathy due to Andersen's diseasedilated cardiomyopathy due to glycogen storage disease type 4 (GSD4)g6pd - [glucose-6-phosphate dehydrogenase deficiency]generalised glycogen storage diseasegeneralised glycogen storage disease of infantsgeneralised glycogenosisglucose-6-phosphatase deficiencyglycogen heart diseaseglycogen storage disease of liver and kidneyglycogen synthase deficiencyglycogen thesaurismosisglycogenic myocardial infiltrationglycogenic myocardium infiltrationglycogenosis type IXEhepatomegalia glycogenica diffusahepatorenal glycogen storage diseaseliver glycogen diseaseliver phosphorylase deficiencylysosomal alpha-1,4-glucosidase deficiency (disorder)muscle glycogen phosphorylase deficiencymyophosphorylase deficiency glycogenosis

Nearby in Inborn errors of carbohydrate metabolism