Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

MedGen UID:: 343524
•Concept ID:: C1856305
•: Disease or Syndrome

Synonyms:	Glycogen storage disease IV, childhood neuromuscular; GSD IV, NEUROMUSCULAR FORM, CHILDHOOD

Monarch Initiative:	MONDO:0017700
OMIM®:	232500
Orphanet:	ORPHA308698

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Non-Neoplastic Disorder by Special Category
- Metabolic disease
  - Carbohydrate metabolism disease
    - Inborn carbohydrate metabolic disorder
      - Glycogen storage disease
        Glycogen storage disease, type IV
        Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Recent clinical studies

Etiology

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588 Free PMC Article

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Diagnosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989

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Therapy

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

See all (1)

Prognosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
Neurology 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. PMID: 15452297

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Clinical prediction guides

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

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Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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