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Glycogen storage disease IIId(GSD IIId)

MedGen UID:: 369845
•Concept ID:: C1968742
•: Disease or Syndrome

Synonyms:	Glycogen Storage Disease IIID; GSD IIID

OMIM®:	232400

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Rare Non-Neoplastic Disorder
      - Glycogen storage disease
        Glycogen storage disease type III
        Glycogen storage disease IIId

Recent clinical studies

Etiology

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M
Clin Chem Lab Med 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281. PMID: 19754354

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

See all (2)

Diagnosis

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT
J Clin Invest 1996 Jul 15;98(2):352-7. doi: 10.1172/JCI118799. PMID: 8755644 Free PMC Article

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

See all (2)

Prognosis

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

Sugie H, Fukuda T, Ito M, Sugie Y, Kojoh T, Nonaka I
J Inherit Metab Dis 2001 Oct;24(5):535-45. doi: 10.1023/a:1012459625902. PMID: 11757581

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

See all (3)

Clinical prediction guides

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

Sugie H, Fukuda T, Ito M, Sugie Y, Kojoh T, Nonaka I
J Inherit Metab Dis 2001 Oct;24(5):535-45. doi: 10.1023/a:1012459625902. PMID: 11757581

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

See all (3)

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Glycogen storage disease IIId(GSD IIId)

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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