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Glycogen storage disease type 13(GSD13)

MedGen UID:
442873
Concept ID:
C2752027
Disease or Syndrome
Synonyms: Enolase 3 deficiency; Enolase-beta deficiency; GLYCOGEN STORAGE DISEASE XIII (1 patient); GSD XIII; GSD13
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ENO3 (17p13.2)
OMIM®: 612932
Orphanet: ORPHA99849

Clinical features

Muscle pain
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in a muscle or group of muscles.
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A reduction in the ability to perform or withstand activities that induce physical or mental exertion.
Increased muscle glycogen content
MedGen UID:
409660
Concept ID:
C1968729
Finding
An increased amount of glycogen in muscle tissue.
CREATINE PHOSPHOKINASE INCREASED
MedGen UID:
57470
Concept ID:
C0151576
Finding
A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.

Recent clinical studies

Etiology

Choi R, Park HD, Kang B, Choi SY, Ki CS, Lee SY, Kim JW, Song J, Choe YH
BMC Med Genet 2016 Apr 21;17:33. doi: 10.1186/s12881-016-0295-1. [Epub ahead of print] PMID: 27103379Free PMC Article
Choi Y, Yi NJ, Ko JS, Moon JS, Suh SW, Lee JM, Jeong JH, Kim H, Lee HW, Lee KW, Suh KS
Transplantation 2016 Mar;100(3):585-92. doi: 10.1097/TP.0000000000000884. PMID: 26360666
Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M
Clin Chim Acta 2015 Jan 15;439:162-7. Epub 2014 Oct 23 doi: 10.1016/j.cca.2014.10.016. [Epub ahead of print] PMID: 25451950
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS
Obstet Gynecol 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82. PMID: 24201678

Diagnosis

Choi R, Park HD, Kang B, Choi SY, Ki CS, Lee SY, Kim JW, Song J, Choe YH
BMC Med Genet 2016 Apr 21;17:33. doi: 10.1186/s12881-016-0295-1. [Epub ahead of print] PMID: 27103379Free PMC Article
Choi Y, Yi NJ, Ko JS, Moon JS, Suh SW, Lee JM, Jeong JH, Kim H, Lee HW, Lee KW, Suh KS
Transplantation 2016 Mar;100(3):585-92. doi: 10.1097/TP.0000000000000884. PMID: 26360666
Michon CC, Gargiulo M, Hahn-Barma V, Petit F, Nadaj-Pakleza A, Herson A, Eymard B, Labrune P, Laforet P
J Inherit Metab Dis 2015 May;38(3):573-80. Epub 2014 Nov 12 doi: 10.1007/s10545-014-9789-1. [Epub ahead of print] PMID: 25388549
Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS
Obstet Gynecol 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82. PMID: 24201678
Salemi VM, Demarchi LM, Cabeda EV, Wagenführ J, Tanaka AC
Eur Heart J Cardiovasc Imaging 2012 Feb;13(2):197. Epub 2011 Nov 14 doi: 10.1093/ejechocard/jer231. [Epub ahead of print] PMID: 22087010

Therapy

Choi Y, Yi NJ, Ko JS, Moon JS, Suh SW, Lee JM, Jeong JH, Kim H, Lee HW, Lee KW, Suh KS
Transplantation 2016 Mar;100(3):585-92. doi: 10.1097/TP.0000000000000884. PMID: 26360666
van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ
J Inherit Metab Dis 2015 Mar;38(2):305-14. Epub 2014 Apr 9 doi: 10.1007/s10545-014-9707-6. [Epub ahead of print] PMID: 24715333Free PMC Article
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS
Obstet Gynecol 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82. PMID: 24201678
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353

Prognosis

Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB
Gene 2015 Apr 25;561(1):124-31. Epub 2015 Feb 12 doi: 10.1016/j.gene.2015.02.023. [Epub ahead of print] PMID: 25681614
Beamer LJ
J Inherit Metab Dis 2015 Mar;38(2):243-56. Epub 2014 Aug 29 doi: 10.1007/s10545-014-9757-9. [Epub ahead of print] PMID: 25168163
Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G
Orphanet J Rare Dis 2013 Oct 10;8:159. doi: 10.1186/1750-1172-8-159. [Epub ahead of print] PMID: 24107549Free PMC Article
Weinstein DA, Wolfsdorf JI
Eur J Pediatr 2002 Oct;161 Suppl 1:S35-9. Epub 2002 Jul 31 doi: 10.1007/s00431-002-1000-2. [Epub ahead of print] PMID: 12373568
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT
Eur J Pediatr 1999 Dec;158 Suppl 2:S43-8. PMID: 10603098Free PMC Article

Clinical prediction guides

Choi Y, Yi NJ, Ko JS, Moon JS, Suh SW, Lee JM, Jeong JH, Kim H, Lee HW, Lee KW, Suh KS
Transplantation 2016 Mar;100(3):585-92. doi: 10.1097/TP.0000000000000884. PMID: 26360666
Allegrini D, Autelitano A, Fogagnolo P, De Cillà S, Piozzi E, Mazza M, Paci S, Montanari C, Riva E, Rossetti L
Can J Ophthalmol 2015 Dec;50(6):480-4. doi: 10.1016/j.jcjo.2015.08.008. PMID: 26651310
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z
Neuromuscul Disord 2015 Jul;25(7):548-53. Epub 2015 Apr 23 doi: 10.1016/j.nmd.2015.04.008. [Epub ahead of print] PMID: 25998610
Michon CC, Gargiulo M, Hahn-Barma V, Petit F, Nadaj-Pakleza A, Herson A, Eymard B, Labrune P, Laforet P
J Inherit Metab Dis 2015 May;38(3):573-80. Epub 2014 Nov 12 doi: 10.1007/s10545-014-9789-1. [Epub ahead of print] PMID: 25388549
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139

Recent systematic reviews

Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases
Genet Med 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. PMID: 21502868
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
Kley RA, Vorgerd M, Tarnopolsky MA
Cochrane Database Syst Rev 2007 Jan 24;(1):CD004760. doi: 10.1002/14651858.CD004760.pub2. PMID: 17253521

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