| H01950 | |
| H number | H01950 |
| Name | Glycogen storage disease type 0a; Liver glycogen synthase deficiency |
| Description | Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0a is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia. |
| Category | Inherited metabolic disorder |
| Network | nt06017(H01950) Glycogen metabolism |
| Gene | GYS2 [HSA:2998] [KO:K00693] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: C565485 OMIM: 240600 |
| Reference | PMID:17928598 AUTHORS Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E TITLE Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. JOURNAL N Engl J Med 357:1507-14 (2007) DOI:10.1056/NEJMoa066691 PMID:141912 AUTHORS Aynsley-Green A, Williamson DH, Gitzelmann R TITLE Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. JOURNAL Arch Dis Child 52:573-9 (1977) DOI:10.1136/adc.52.7.573 |