DR info

Clinical trials : 180 / Drugs : 133 - (DrugBank : 29) / Drug target genes : 25 - Drug target pathways : 105

Subtypes	No.	Name	Specific pediatric chronic diseases, Japan (in Japanese)
Other names	Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
Disease group	Metabolic diseases
Related info (in Japanese)	-
Clinical research form [April 1, 2025 ~] (in Japanese)	Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)
Specific pediatric chronic diseases, Japan (in Japanese)	-
	256-1.	Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;	8-5-65. Glycogen synthase deficiency
	256-2.	Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;	8-6-97. Pompe disease; glycogen storage disease type II
	256-3.	Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;	8-5-67. Glycogen storage disease type III
	256-4.	Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;	8-5-68. Glycogen storage disease type IV
	256-5.	Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;	8-5-69. Glycogen storage disease type V
	256-6.	Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;	8-5-71. Glycogen storage disease type VII
	256-7.	Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;	8-5-72. Glycogen storage disease type IX
	256-8.	Phosphoglycerate kinase deficiency;PGK deficiency;
	256-9.	Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;
	256-10.	Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;
	256-11.	Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;
	256-12.	Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;
	256-13.	Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;
	256-14.	Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency;