H01950 | |
H番号 | H01950 |
名称 | 糖原病 0a 型; 肝グリコーゲン合成酵素欠損症 |
概要 | 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. |
カテゴリ | 先天性代謝異常症 |
ネットワーク | nt06017(H01950) Glycogen metabolism |
病因遺伝子 | GYS2 [HSA:2998] [KO:K00693] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: C565485 OMIM: 240600 |
文献 | PMID:17928598 著者 Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E タイトル Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. 雑誌 N Engl J Med 357:1507-14 (2007) DOI:10.1056/NEJMoa066691 PMID:141912 著者 Aynsley-Green A, Williamson DH, Gitzelmann R タイトル Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. 雑誌 Arch Dis Child 52:573-9 (1977) DOI:10.1136/adc.52.7.573 |