H01941 | |
H番号 | H01941 |
名称 | 糖原病 III 型; コーリ病; フォーブズ病 |
概要 | 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). |
カテゴリ | 先天性代謝異常症 |
ネットワーク | nt06017(H01941) Glycogen metabolism |
病因遺伝子 | AGL [HSA:178] [KO:K01196] |
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: D006010 OMIM: 232400 |
文献 | PMID:20648714 著者 Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS タイトル Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 雑誌 Genet Med 12:424-30 (2010) DOI:10.1097/GIM.0b013e3181d94eaa |