Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

MedGen UID:: 344701
•Concept ID:: C1856302
•: Disease or Syndrome

Synonym:	GSD IV, nonprogressive hepatic form

Monarch Initiative:	MONDO:0017696
OMIM®:	232500
Orphanet:	ORPHA308638

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MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Carbohydrate Metabolism, Inborn Errors
      - Glycogen storage disease
        Glycogen storage disease, type IV
        Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Recent clinical studies

Diagnosis

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT
Am J Med Genet A 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. PMID: 16528737

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Moses SW, Parvari R
Curr Mol Med 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. PMID: 11949934

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Shen J, Liu HM, McConkie-Rosell A, Chen YT
Prenat Diagn 1999 Sep;19(9):837-9. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

See all (3)

Prognosis

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Shen J, Liu HM, McConkie-Rosell A, Chen YT
Prenat Diagn 1999 Sep;19(9):837-9. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT
J Inherit Metab Dis 1996;19(1):51-8. doi: 10.1007/BF01799348. PMID: 8830177

See all (2)

Clinical prediction guides

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Shen J, Liu HM, McConkie-Rosell A, Chen YT
Prenat Diagn 1999 Sep;19(9):837-9. doi: 10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g. PMID: 10521841

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.

McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P, Shen JJ, Boney A, Brown B, Chen YT
J Inherit Metab Dis 1996;19(1):51-8. doi: 10.1007/BF01799348. PMID: 8830177

See all (2)

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Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

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