| H01953 | |
| H number | H01953 |
| Name | Glycogen storage disease type XIII |
| Description | Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentations are exercise intolerance and myalgias. |
| Category | Inherited metabolic disorder |
| Network | nt06017(H01953) Glycogen metabolism |
| Gene | ENO3 [HSA:2027] [KO:K01689] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: C567861 OMIM: 612932 |
| Reference | PMID:11506403 AUTHORS Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N TITLE Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. JOURNAL Ann Neurol 50:202-7 (2001) DOI:10.1002/ana.1095 |