| H01762 | |
| H番号 | H01762 |
| 名称 | 筋型糖原病 |
| 概要 | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. GSD has been known to mainly be a liver disease with the exception of Pompe (GSD II), McArdle (GSD V), or Tarui (GSD VII) diseases. Recently, however, various muscular disorders involving different types of muscles have been described to be caused by defective glycogen metabolism. In the Muscle GSDs, the consequence of a block in skeletal muscle glycogenolysis, or in the glycolysis, is an impairment of muscular performance, owing to an increase in glycogen storage that disrupts contractile function and/or a reduced substrate turnover, which inhibits skeletal muscle ATP production. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (GSD II) GAA [HSA:2548] [KO:K12316] (GSD III) AGL [HSA:178] [KO:K01196] (GSD IV) GBE1 [HSA:2632] [KO:K00700] (GSD V) PYGM [HSA:5837] [KO:K00688] (GSD VII) PFKM [HSA:5213] [KO:K00850] (GSD IXd) PHKA1 [HSA:5255] [KO:K07190] (GSD X) PGAM2 [HSA:5224] [KO:K01834] (GSD XI) LDHA [HSA:3939] [KO:K00016] (GSD XII) ALDOA [HSA:226] [KO:K01623] (GSD XIII) ENO3 [HSA:2027] [KO:K01689] (GSD XIV) PGM1 [HSA:5236] [KO:K01835] (GSD XV) GYG1 [HSA:2992] [KO:K00750] (GSB 0) GYS1 [HSA:2997] [KO:K00693] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00069 Glycogen storage diseases (GSD). |
| リンク | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: D006008 OMIM: 232300 232400 232500 232600 232800 300559 261670 612933 611881 612932 614921 613507 611556 |
| 文献 | PMID:17552001 著者 Ozen H タイトル Glycogen storage diseases: new perspectives. 雑誌 World J Gastroenterol 13:2541-53 (2007) DOI:10.3748/wjg.v13.i18.2541 PMID:17027861 著者 Shin YS タイトル Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. 雑誌 Semin Pediatr Neurol 13:115-20 (2006) DOI:10.1016/j.spen.2006.06.007 PMID:25326273 著者 Preisler N, Haller RG, Vissing J タイトル Exercise in muscle glycogen storage diseases. 雑誌 J Inherit Metab Dis 38:551-63 (2015) DOI:10.1007/s10545-014-9771-y |