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Glycogen storage disease IIIb(GSD IIIb)

MedGen UID:
369843
•Concept ID:
C1968740
•
Disease or Syndrome
Synonyms: Glycogen Storage Disease IIIB; GSD IIIB
 
OMIM®: 232400

Professional guidelines

PubMed

Pregnancy and its management in women with GSD type III - a single centre experience.
Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E
J Inherit Metab Dis 2012 Mar;35(2):245-51. Epub 2011 Sep 7 doi: 10.1007/s10545-011-9384-7. PMID: 21947574
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT
Mol Genet Metab 2000 Jan;69(1):16-23. doi: 10.1006/mgme.1999.2953. PMID: 10655153

Recent clinical studies

Etiology

Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB
Genet Med 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979. PMID: 20526204Free PMC Article
Glycogen storage diseases: new perspectives.
Ozen H
World J Gastroenterol 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. PMID: 17552001Free PMC Article
Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group.
Haagsma EB, Smit GP, Niezen-Koning KE, Gouw AS, Meerman L, Slooff MJ
Hepatology 1997 Mar;25(3):537-40. doi: 10.1002/hep.510250307. PMID: 9049194
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT
J Pediatr 1990 Jan;116(1):95-100. doi: 10.1016/s0022-3476(05)81652-x. PMID: 2295969

Diagnosis

Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
The electrodiagnostic characteristics of Glycogen Storage Disease Type III.
Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS
Genet Med 2010 Jul;12(7):440-5. doi: 10.1097/GIM.0b013e3181cd735b. PMID: 20071996
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
Lam CW, Lee AT, Lam YY, Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF
Mol Genet Metab 2004 Nov;83(3):271-5. doi: 10.1016/j.ymgme.2004.07.017. PMID: 15542399
Molecular characterization of glycogen storage disease type III.
Shen JJ, Chen YT
Curr Mol Med 2002 Mar;2(2):167-75. doi: 10.2174/1566524024605752. PMID: 11949933
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Shen J, Liu HM, McConkie-Rosell A, Chen YT
Prenat Diagn 1998 Jan;18(1):61-4. doi: 10.1002/(sici)1097-0223(199801)18:1<61::aid-pd223>3.0.co;2-i. PMID: 9483641

Therapy

Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb.
Kroczka S, Biedroń A, Kaciński M
Clin EEG Neurosci 2014 Jul;45(3):201-4. doi: 10.1177/1550059413500276. PMID: 24357677
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA
J Inherit Metab Dis 2009 Dec;32 Suppl 1(0 1):S103-6. Epub 2009 Mar 30 doi: 10.1007/s10545-009-1088-x. PMID: 19322675Free PMC Article
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Mundy HR, Williams JE, Lee PJ, Fewtrell MS
J Inherit Metab Dis 2008 Jun;31(3):418-23. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0830-0. PMID: 18392743

Prognosis

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS
Genet Med 2019 Dec;21(12):2686-2694. Epub 2019 Jul 2 doi: 10.1038/s41436-019-0561-7. PMID: 31263214
Epilepsy and electrophysiological findings in polish twins with glycogenosis type IIIb.
Kroczka S, Biedroń A, Kaciński M
Clin EEG Neurosci 2014 Jul;45(3):201-4. doi: 10.1177/1550059413500276. PMID: 24357677
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT
Ann Intern Med 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896. PMID: 1580445
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT
J Pediatr 1990 Jan;116(1):95-100. doi: 10.1016/s0022-3476(05)81652-x. PMID: 2295969

Clinical prediction guides

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB
Genet Med 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979. PMID: 20526204Free PMC Article
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.
Fukuda T, Sugie H, Ito M
J Inherit Metab Dis 2000 Mar;23(2):95-106. doi: 10.1023/a:1005695229464. PMID: 10801050
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Okubo M, Horinishi A, Nakamura N, Aoyama Y, Hashimoto M, Endo Y, Murase T
Hum Genet 1998 Jan;102(1):1-5. doi: 10.1007/s004390050646. PMID: 9490286
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT
Ann Intern Med 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896. PMID: 1580445
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT
J Pediatr 1990 Jan;116(1):95-100. doi: 10.1016/s0022-3476(05)81652-x. PMID: 2295969

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