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GLYCOGEN STORAGE DISEASE, TYPE IIIb

MedGen UID:
854174
•Concept ID:
C3695006
•
Disease or Syndrome
OMIM®: 610860

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

Diagnosis

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS
Genet Med 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa. PMID: 20648714
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

Prognosis

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

Clinical prediction guides

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

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