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

MedGen UID:: 383883
•Concept ID:: C1856303
•: Disease or Syndrome

Synonyms:	Glycogen storage disease IV, fatal perinatal neuromuscular; Gsd IV, neuromuscular form, fatal perinatal

Monarch Initiative:	MONDO:0017697
OMIM®:	232500; 607839
Orphanet:	ORPHA308655

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

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

Recent clinical studies

Diagnosis

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Yu W, Brundler MA, Wright JR Jr
Pediatr Dev Pathol 2018 Jul-Aug;21(4):423-427. Epub 2017 May 12 doi: 10.1177/1093526617707852. PMID: 28497716

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

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F
J Inherit Metab Dis 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. PMID: 15669676

See all (3)

Prognosis

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Yu W, Brundler MA, Wright JR Jr
Pediatr Dev Pathol 2018 Jul-Aug;21(4):423-427. Epub 2017 May 12 doi: 10.1177/1093526617707852. PMID: 28497716

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC
J Child Neurol 2012 Feb;27(2):204-8. Epub 2011 Sep 13 doi: 10.1177/0883073811415107. PMID: 21917543

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.

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F
J Inherit Metab Dis 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. PMID: 15669676

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

See all (5)

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

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

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