| H00069 | |
| H番号 | H00069 |
| 名称 | 糖原病 |
| 概要 | Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06017 Glycogen metabolism |
| 病因遺伝子 | (GSD1A) G6PC1 [HSA:2538] [KO:K01084] (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171] (GSD2) GAA [HSA:2548] [KO:K12316] (GSD3) AGL [HSA:178] [KO:K01196] (GSD4) GBE1 [HSA:2632] [KO:K00700] (GSD5) PYGM [HSA:5837] [KO:K00688] (GSD6) PYGL [HSA:5836] [KO:K00688] (GSD7) PFKM [HSA:5213] [KO:K00850] (GSD9A) PHKA2 [HSA:5256] [KO:K07190] (GSD9B) PHKB [HSA:5257] [KO:K07190] (GSD9C) PHKG2 [HSA:5261] [KO:K00871] (GSD9D) PHKA1 [HSA:5255] [KO:K07190] (GSD10) PGAM2 [HSA:5224] [KO:K01834] (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593] (GSD11) LDHA [HSA:3939] [KO:K00016] (GSD12) ALDOA [HSA:226] [KO:K01623] (GSD13) ENO3 [HSA:2027] [KO:K01689] (GSD14) PGM1 [HSA:5236] [KO:K01835] (GSD15) GYG1 [HSA:2992] [KO:K00750] (GSDH) PRKAG2 [HSA:51422] [KO:K07200] (GSD0A) GYS2 [HSA:2998] [KO:K00693] (GSD0B) GYS1 [HSA:2997] [KO:K00693] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Additional genes for phosphorylase kinase, which activates glycogen phosphorylase, may also be involved. |
| リンク | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: D006008 OMIM: 232200 232220 232240 232300 232400 232500 232600 232700 232800 306000 261750 613027 300559 261670 227810 612933 611881 612932 612934 613507 261740 240600 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:11949931 (GSD type I) 著者 Chou JY, Matern D, Mansfield BC, Chen YT タイトル Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 雑誌 Curr Mol Med 2:121-43 (2002) DOI:10.2174/1566524024605798 PMID:11949932 (GSD type II) 著者 Raben N, Plotz P, Byrne BJ タイトル Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). 雑誌 Curr Mol Med 2:145-66 (2002) DOI:10.2174/1566524024605789 PMID:11949933 (GSD type III) 著者 Shen JJ, Chen YT タイトル Molecular characterization of glycogen storage disease type III. 雑誌 Curr Mol Med 2:167-75 (2002) DOI:10.2174/1566524024605752 PMID:11949934 (GSD type IV) 著者 Moses SW, Parvari R タイトル The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. 雑誌 Curr Mol Med 2:177-88 (2002) DOI:10.2174/1566524024605815 PMID:11949935 (GSD type V) 著者 Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM タイトル Myophosphorylase deficiency (glycogenosis type V; McArdle disease). 雑誌 Curr Mol Med 2:189-96 (2002) DOI:10.2174/1566524024605770 PMID:8655128 (GSD type IX) 著者 Hendrickx J, Willems PJ タイトル Genetic deficiencies of the glycogen phosphorylase system. 雑誌 Hum Genet 97:551-6 (1996) DOI:10.1007/BF02281858 PMID:11949937 (GSD type XI) 著者 Santer R, Steinmann B, Schaub J タイトル Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. 雑誌 Curr Mol Med 2:213-27 (2002) DOI:10.2174/1566524024605743 PMID:16337419 (GSD type 0) 著者 Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI タイトル Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. 雑誌 Mol Genet Metab 87:284-8 (2006) DOI:10.1016/j.ymgme.2005.10.006 PMID:8447317 (GSD type X) 著者 Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S タイトル The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. 雑誌 Am J Hum Genet 52:472-7 (1993) PMID:2334430 (GSD type XI) 著者 Maekawa M, Sudo K, Kanno T, Li SS タイトル Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. 雑誌 Biochem Biophys Res Commun 168:677-82 (1990) DOI:10.1016/0006-291X(90)92374-9 PMID:8598869 (GSD type XII) 著者 Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F タイトル Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 雑誌 N Engl J Med 334:1100-4 (1996) DOI:10.1056/NEJM199604253341705 PMID:11506403 (GSD type XIII) 著者 Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N タイトル Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 雑誌 Ann Neurol 50:202-7 (2001) DOI:10.1002/ana.1095 PMID:19625727 (GSD type XIV) 著者 Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforet P タイトル Muscle glycogenosis due to phosphoglucomutase 1 deficiency. 雑誌 N Engl J Med 361:425-7 (2009) DOI:10.1056/NEJMc0901158 PMID:20357282 (GSD type XV) 著者 Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A タイトル Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 雑誌 N Engl J Med 362:1203-10 (2010) DOI:10.1056/NEJMoa0900661 PMID:15877279 (GSD of Heart) 著者 Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW タイトル Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 雑誌 Am J Hum Genet 76:1034-49 (2005) DOI:10.1086/430840 |