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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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen 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
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT
Eur J Pediatr 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. PMID: 10603098Free PMC Article
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

Prognosis

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
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT
Eur J Pediatr 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. PMID: 10603098Free PMC Article
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
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y, Kishnani P, Wu JY, Chen YT
J Clin Invest 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. PMID: 8613547Free PMC Article

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
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y, Kishnani P, Wu JY, Chen YT
J Clin Invest 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. PMID: 8613547Free PMC Article

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