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Glycogen storage disease IIIa(GSD IIIa)

MedGen UID:: 369842
•Concept ID:: C1968739
•: Disease or Syndrome

Synonym:	GSD IIIa

OMIM®:	232400

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease

Non-Neoplastic Disorder by Special Category
- Metabolic disease
  - Carbohydrate metabolism disease
    - Inborn carbohydrate metabolic disorder
      - Glycogen storage disease
        Glycogen storage disease type III
        Glycogen storage disease IIIa

Recent clinical studies

Etiology

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075 Free PMC Article

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Paschall A, Khan AA, Enam SF, Boggs T, Hijazi G, Bowling M, Austin S, Case LE, Kishnani P
Mol Genet Metab 2021 Nov;134(3):223-234. Epub 2021 Oct 9 doi: 10.1016/j.ymgme.2021.10.002. PMID: 34649782 Free PMC Article

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W
BMC Med Genet 2018 Apr 4;19(1):54. doi: 10.1186/s12881-018-0560-6. PMID: 29614965 Free PMC Article

See all (3)

Diagnosis

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W
BMC Med Genet 2018 Apr 4;19(1):54. doi: 10.1186/s12881-018-0560-6. PMID: 29614965 Free PMC Article

Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.

Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272

Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.

Kondo Y, Usui H, Ishige-Wada M, Murase T, Owada M, Okubo M
Clin Chim Acta 2013 Sep 23;424:19-21. Epub 2013 May 13 doi: 10.1016/j.cca.2013.05.007. PMID: 23688858

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Therapy

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: 19322675 Free PMC Article

See all (1)

Prognosis

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

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

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

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Clinical prediction guides

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.

Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272

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

See all (3)

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Glycogen storage disease IIIa(GSD IIIa)

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

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