5C51.3
Glycogen storage disease
Doença de depósito de glicogênio
CategoryDefinition
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
- Glycogen storage disease due to LAMP-2 deficiency
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Glycogen storage disease due to GLUT2 deficiency
- Glycogen storage disease due to aldolase A deficiency
- Glycogen storage disease due to muscle beta-enolase deficiency
- Glycogen storage disease due to phosphoglucomutase deficiency
- Glycogen storage disease due to glycogenin deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Glycogen storage disease due to muscle pyruvate kinase deficiency
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency
Index Terms
Glycogen storage diseaseGlycogenosisGSD - [Glycogen storage disease]glycogen thesaurismosisdiffuse glycogenosisgeneralised glycogen storage diseasegeneralised glycogenosisgeneralised glycogen storage disease of infantsglycogen synthase deficiencyGlycogen storage disease due to glycogen synthase deficiencyGlycogen storage disease type 0Glycogenosis type 0GSD type 0deficiency of glycogen synthetaseGlycogen storage disease due to liver glycogen synthase deficiencyGSD type 0AGlycogen storage disease type 0AGlycogenosis type 0AGlycogen storage disease due to muscle or heart glycogen synthase deficiencyGlycogen storage disease type 0BGlycogenosis type 0BGSD type 0BCardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiencyGlycogen storage disease due to glucose-6-phosphate system deficiencyGlycogen storage disease type 1Glycogenosis type 1GSD type 1Hepatorenal glycogenosisVon Gierke diseaseHERS - [hepatorenal glycogen storage disease]glycogen storage disease of liver and kidneyhepatorenal glycogen storage diseaseGlycogen storage disease due to glucose-6-phosphatase deficiencyGlycogen storage disease type 1AGlycogenosis type 1AGSD type 1Ag6pd - [glucose-6-phosphate dehydrogenase deficiency]glucose-6-phosphatase deficiencydeficiency of g-6pdGlycogen storage disease due to glucose-6-phosphate transport defectGlycogen storage disease type 1BGlycogenosis type 1BGSD1BGlycogen storage disease type non-1AGlycogenosis type non-1AGlycogen storage disease due to glucose-6-phosphate translocase deficiencyGlucose-6-phosphate dehydrogenase deficiencyGlycogen storage disease due to acid maltase deficiencyGlycogen storage disease type 2Glycogenosis type 2GSD type 2Acid maltase deficiencyPompe diseaseAcid alpha-1,4-glucosidase deficiencyalpha-glucosidase deficiencydeficiency of amyloglucosidaseGlycogen storage disease due to acid maltase deficiency, infantile onsetGlycogen storage disease type 2, infantile onsetGlycogenosis type 2, infantile onsetGSD2, infantile onsetGlycogen storage disease due to acid alpha-1,4-glucosidase deficiency, infantile onsetInfantile Pompe diseaselysosomal alpha-1,4-glucosidase deficiency (disorder)Glycogen storage disease due to acid maltase deficiency, juvenile onsetGlycogen storage disease due to acid maltase deficiency, adult onsetDeficiency of exo-1,4-alpha-glucosidaseDeficiency of glucan 1,4-alpha-glucosidaseDeficiency of gamma-amylaseDeficiency of glucoamylaseDeficiency of glucoinvertaseDeficiency of glucosidosucraseDeficiency of maltaseGlycogen storage disease due to LAMP-2 deficiencyGlycogen storage disease type 2BGlycogenosis type 2BGSD type 2BLysosomal glycogen storage disease with normal acid maltase activityDanon diseaseGlycogen storage disease due to glycogen debranching enzyme deficiencyGlycogen storage disease type 3Glycogenosis type 3GSD type 3Amylo-1,6-glucosidase deficiencyGlycogen debranching deficiencyCori-Forbes diseaseCori diseaseForbes diseaseForbes glycogen storage diseasedebrancher deficiency glycogen storage diseasedebrancher enzyme deficiencydeficiency of 6-alpha-d-glucosidaseamylo-1,6-glucosidase deficiency disorderGlycogen storage disease due to muscle glycogen phosphorylase deficiencyGlycogen storage disease type 5Glycogenosis type 5GSD type 5Myophosphorylase deficiencyMcArdle diseasemyophosphorylase deficiency glycogenosisGlycogen storage disease due to liver glycogen phosphorylase deficiencyGlycogenosis due to liver phosphorylase deficiencyGlycogen storage disease type 6Glycogenosis type 6GSD type 6Glycogen storage disease type 6BGlycogenosis type 6BGSD type 6BHers diseasedeficiency of hepatophosphorylaseGlycogen storage disease due to muscle phosphofructokinase deficiencyGlycogen storage disease type 7Glycogenosis type 7GSD type 7Muscle phosphofructokinase deficiencyTarui diseaseanaemia due to phosphofructo-aldolase deficiencyGlycogen storage disease due to glycogen phosphorylase kinase deficiencyGlycogenosis due to phosphorylase kinase deficiencyGSD due to phosphorylase kinase deficiencyGlycogen storage disease due to liver glycogen phosphorylase kinase deficiencyHepatic phosphorylase kinase deficiencyGlycogen storage disease type 8Glycogenosis type 8GSD8 - [glycogen storage disease type 8]Glycogen storage disease type 6AGlycogen storage disease type 9AGlycogen storage disease type 9CGlycogenosis type 6AGlycogenosis type 9AGlycogenosis type 9CGSD type 9C - [glycogen storage disease type 9C]GSD6A - [glycogen storage disease type 6A]GSD9A - [glycogen storage disease type 9A]Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiencyGlycogen storage disease type 9BGlycogenosis type 9BGSD type 9BGlycogen storage disease type 9Glycogenosis type 9GSD9 - [glycogen storage disease type 9]Glycogen storage disease due to heart glycogen phosphorylase kinase deficiencyGlycogen storage disease of heartCardiac glycogenosisGlycogen storage disease type 9FGlycogenosis type 9FGSD9Fglycogen heart diseaseglycogenic myocardial infiltrationglycogenic myocardium infiltrationcardiomegalia glycogenica diffusaGlycogen storage disease due to muscle glycogen phosphorylase kinase deficiencyGSD9D - [glycogen storage disease type IXD]Glycogen storage disease type 9DGlycogen storage disease type 9EGlycogenosis type 9DGlycogenosis type 9EGSD9Emuscle glycogen phosphorylase deficiencyglycogenosis type IXEGlycogen storage disease due to muscle phosphoglycerate mutase deficiencyGlycogen storage disease type 10Glycogenosis type 10GSD type 10Di Mauro diseaseGlycogen storage disease due to GLUT2 deficiencyGlycogen storage disease type 11Glycogenosis type 11GSD type 11Fanconi-Bickel glycogenosisBickel-Fanconi diseaseFacilitated glucose transporter protein type 2 deficiencyFanconi-Bickel syndromeGlycogen storage disease due to aldolase A deficiencyGlycogen storage disease type 12Glycogenosis type 12GSD type 12Glycogen storage disease due to muscle beta-enolase deficiencyGlycogen storage disease type 13Glycogenosis type 13GSD type 13Glycogen storage disease due to phosphoglucomutase deficiencyGlycogen storage disease type 14Glycogenosis type 14GSD type 14Glycogen storage disease due to glycogenin deficiencyGlycogen storage disease type 15GSD type 15Glocogenosis type 15Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyGlycogenosis due to phosphoglycerate kinase 1 deficiencyGSD due to phosphoglycerate kinase 1 deficiencyGlycogen storage disease due to lactate dehydrogenase deficiencyGlycogenosis due to lactate dehydrogenase deficiencyGSD due to lactate dehydrogenase deficiencyGlycogen storage disease due to muscle pyruvate kinase deficiencyGlycogenosis due to muscle pyruvate kinase deficiencyGSD due to muscle pyruvate kinase deficiencyGlycogen storage liver diseasehepatomegalia glycogenica diffusaliver glycogen diseaseliver phosphorylase deficiencyGlycogen storage disease due to branching-transferase deficiencyAndersen diseasebrancher deficiency glycogen storage diseasebranching enzyme deficiencybranching-transferase deficiency glycogenosisdeficiency of 1,4-alpha-glucan branching enzymedeficiency of amylo-(1,4,6)-transglycosylaseGlycogen storage disease type 4Glycogenosis type 4GSD- [Glycogen storage disease] type 4Dilated cardiomyopathy due to glycogen branching enzyme deficiencyAmylopectinosisdilated cardiomyopathy due to Andersen's diseasedilated cardiomyopathy due to glycogen storage disease type 4 (GSD4)