| H01955 | |
| H number | H01955 |
| Name | Glycogen storage disease type XV |
| Description | Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentations are muscle weakness and cardiomyopathy. |
| Category | Inherited metabolic disorder |
| Network | nt06017(H01955) Glycogen metabolism |
| Gene | GYG1 [HSA:2992] [KO:K00750] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 OMIM: 613507 |
| Reference | PMID:20357282 AUTHORS Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A TITLE Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. JOURNAL N Engl J Med 362:1203-10 (2010) DOI:10.1056/NEJMoa0900661 |