| H01941 | |
| H number | H01941 |
| Name | Glycogen storage disease type III; Cori disease; Forbes disease |
| Description | Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb). |
| Category | Inherited metabolic disorder |
| Network | nt06017(H01941) Glycogen metabolism |
| Gene | AGL [HSA:178] [KO:K01196] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: D006010 OMIM: 232400 |
| Reference | PMID:20648714 AUTHORS Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS TITLE Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. JOURNAL Genet Med 12:424-30 (2010) DOI:10.1097/GIM.0b013e3181d94eaa |