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Glycogen storage disease due to glycogen synthase deficiency

MedGen UID:
1843211
Concept ID:
C5679973
Disease or Syndrome
Synonyms: Glycogenosis due to glycogen synthase deficiency; GSD due to glycogen synthase deficiency
 
Orphanet: ORPHA308520

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to glycogen synthase deficiency

Professional guidelines

PubMed

Collins JE, Leonard JV
Hum Nutr Appl Nutr 1985 Aug;39(4):255-72. PMID: 3900002

Recent clinical studies

Etiology

Hui J, Tang NL, Li CK, Law LK, To KF, Yau P, Fung SL, Chong JS, Tsung L, Chiang G, Fung E, Cheung KL, Yeung WL, Fok TF
Pathology 2014 Aug;46(5):375-82. doi: 10.1097/PAT.0000000000000140. PMID: 24992243
Heller S, Worona L, Consuelo A
J Pediatr Gastroenterol Nutr 2008 Aug;47 Suppl 1:S15-21. doi: 10.1097/MPG.0b013e3181818ea5. PMID: 18667910
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121

Diagnosis

Skurat AV, Segvich DM, DePaoli-Roach AA, Roach PJ
Glycobiology 2017 May 1;27(5):416-424. doi: 10.1093/glycob/cwx005. PMID: 28077463Free PMC Article
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A
Ann Neurol 2014 Dec;76(6):891-8. Epub 2014 Oct 31 doi: 10.1002/ana.24284. PMID: 25272951Free PMC Article
Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I
Neuromuscul Disord 2012 Feb;22(2):162-5. Epub 2011 Sep 29 doi: 10.1016/j.nmd.2011.08.008. PMID: 21958591
Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI
Mol Genet Metab 2006 Apr;87(4):284-8. Epub 2005 Dec 6 doi: 10.1016/j.ymgme.2005.10.006. PMID: 16337419Free PMC Article
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121

Therapy

Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS
Neurotherapeutics 2023 Oct;20(6):1808-1819. Epub 2023 Sep 12 doi: 10.1007/s13311-023-01434-9. PMID: 37700152Free PMC Article
Lau YK, Peck SH, Arginteanu T, Wu M, Lin M, Shore EM, Klein PS, Casal ML, Smith LJ
Bone 2022 Jan;154:116237. Epub 2021 Oct 22 doi: 10.1016/j.bone.2021.116237. PMID: 34695616Free PMC Article
Heller S, Worona L, Consuelo A
J Pediatr Gastroenterol Nutr 2008 Aug;47 Suppl 1:S15-21. doi: 10.1097/MPG.0b013e3181818ea5. PMID: 18667910
Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M, Bosshard NU
Eur J Pediatr 1996 Jul;155(7):561-7. doi: 10.1007/BF01957905. PMID: 8831078
Collins JE, Leonard JV
Hum Nutr Appl Nutr 1985 Aug;39(4):255-72. PMID: 3900002

Prognosis

Musumeci O, Pugliese A, Oteri R, Volta S, Ciranni A, Moggio M, Rodolico C, Toscano A
Neuromuscul Disord 2022 Jul;32(7):582-589. Epub 2022 Mar 31 doi: 10.1016/j.nmd.2022.03.008. PMID: 35641353
Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S
J Pediatr Endocrinol Metab 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317. PMID: 28245189
Elpeleg ON
J Pediatr Endocrinol Metab 1999 May-Jun;12(3):363-79. doi: 10.1515/jpem.1999.12.3.363. PMID: 10821216
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121
Groop LC, Eriksson JG
Ann Med 1992 Dec;24(6):483-9. doi: 10.3109/07853899209167000. PMID: 1485943

Clinical prediction guides

Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S
J Pediatr Endocrinol Metab 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317. PMID: 28245189
Skurat AV, Segvich DM, DePaoli-Roach AA, Roach PJ
Glycobiology 2017 May 1;27(5):416-424. doi: 10.1093/glycob/cwx005. PMID: 28077463Free PMC Article
Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A
J Neurochem 2013 Oct;127(1):101-13. Epub 2013 May 9 doi: 10.1111/jnc.12277. PMID: 23607684
Hubner RH, Leopold PL, Kiuru M, De BP, Krause A, Crystal RG
Am J Respir Cell Mol Biol 2009 Feb;40(2):239-47. Epub 2008 Aug 7 doi: 10.1165/rcmb.2008-0029OC. PMID: 18688041Free PMC Article
Elpeleg ON
J Pediatr Endocrinol Metab 1999 May-Jun;12(3):363-79. doi: 10.1515/jpem.1999.12.3.363. PMID: 10821216

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