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Glycogen storage disease IV, classic hepatic

MedGen UID:
383882
•Concept ID:
C1856301
•
Disease or Syndrome
Synonym: GSD IV, CLASSIC HEPATIC
 
OMIM®: 232500

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: 38912588Free PMC Article

Diagnosis

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: 38912588Free PMC Article
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.
Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM
Clin Dysmorphol 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248. PMID: 30303820
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

Therapy

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: 38912588Free PMC Article

Prognosis

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: 38912588Free PMC Article
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ
Hum Pathol 2012 Jun;43(6):943-51. Epub 2012 Feb 2 doi: 10.1016/j.humpath.2011.10.001. PMID: 22305237
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
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

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: 38912588Free PMC Article
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ
Hum Pathol 2012 Jun;43(6):943-51. Epub 2012 Feb 2 doi: 10.1016/j.humpath.2011.10.001. PMID: 22305237
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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