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Glucose-6-Phosphatase 3 Deficiency

MedGen UID:
1790766
•Concept ID:
C5552921
•
Disease or Syndrome
Synonyms: G6PC3 Deficiency; Glucose-6-phosphatase Catalytic Subunit 3 Deficiency

Definition

An autosomal recessive inherited disorder caused by mutations in the G6PC3 gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphatase 3. Patients may develop severe congenital neutropenia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlucose-6-Phosphatase 3 Deficiency

Professional guidelines

PubMed

Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
Hoffmann D, Kuehle J, Lenz D, Philipp F, Zychlinski D, Lachmann N, Moritz T, Steinemann D, Morgan M, Skokowa J, Klein C, Schambach A
Gene Ther 2020 Jun;27(6):297-306. Epub 2020 Feb 12 doi: 10.1038/s41434-020-0127-y. PMID: 32051561
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
Glycogen storage disease: recommendations for treatment.
Fernandes J, Leonard JV, Moses SW, Odièvre M, di Rocco M, Schaub J, Smit GP, Ullrich K, Durand P
Eur J Pediatr 1988 Apr;147(3):226-8. doi: 10.1007/BF00442683. PMID: 3292244

Recent clinical studies

Etiology

Systematic literature review of the epidemiology of glycogen storage disease type 1a.
Zelei T, Kovács S, Finn P, Nagy D, Sikirica V, Carlson KB, Vokó Z
J Pediatr Endocrinol Metab 2023 Sep 26;36(9):809-817. Epub 2023 Aug 25 doi: 10.1515/jpem-2023-0127. PMID: 37615591
Glucose-6-phosphate dehydrogenase deficiency and risk of cardiovascular disease: A propensity score-matched study.
Pes GM, Parodi G, Dore MP
Atherosclerosis 2019 Mar;282:148-153. Epub 2019 Jan 28 doi: 10.1016/j.atherosclerosis.2019.01.027. PMID: 30731288
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
Chou JY, Matern D, Mansfield BC, Chen YT
Curr Mol Med 2002 Mar;2(2):121-43. doi: 10.2174/1566524024605798. PMID: 11949931

Diagnosis

Systematic literature review of the epidemiology of glycogen storage disease type 1a.
Zelei T, Kovács S, Finn P, Nagy D, Sikirica V, Carlson KB, Vokó Z
J Pediatr Endocrinol Metab 2023 Sep 26;36(9):809-817. Epub 2023 Aug 25 doi: 10.1515/jpem-2023-0127. PMID: 37615591
Glucose-6-phosphate dehydrogenase deficiency and risk of cardiovascular disease: A propensity score-matched study.
Pes GM, Parodi G, Dore MP
Atherosclerosis 2019 Mar;282:148-153. Epub 2019 Jan 28 doi: 10.1016/j.atherosclerosis.2019.01.027. PMID: 30731288
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S, Newman WG
Orphanet J Rare Dis 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. PMID: 23758768Free PMC Article
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article

Therapy

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Endurance exercise-mediated metabolic reshuffle attenuates high-caloric diet-induced non-alcoholic fatty liver disease.
Cook JJ, Wei M, Segovia B, Cosio-Lima L, Simpson J, Taylor S, Koh Y, Kim S, Lee Y
Ann Hepatol 2022 Jul-Aug;27(4):100709. Epub 2022 Apr 28 doi: 10.1016/j.aohep.2022.100709. PMID: 35489641
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M
Blood 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. PMID: 32294159Free PMC Article
An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.
Zhang L, Cho JH, Arnaoutova I, Mansfield BC, Chou JY
J Inherit Metab Dis 2019 May;42(3):470-479. Epub 2019 Feb 22 doi: 10.1002/jimd.12069. PMID: 30714174Free PMC Article
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.
Chou JY, Jun HS, Mansfield BC
J Inherit Metab Dis 2015 May;38(3):511-9. Epub 2014 Oct 7 doi: 10.1007/s10545-014-9772-x. PMID: 25288127

Prognosis

Glucose-6-phosphate dehydrogenase deficiency and risk of cardiovascular disease: A propensity score-matched study.
Pes GM, Parodi G, Dore MP
Atherosclerosis 2019 Mar;282:148-153. Epub 2019 Jan 28 doi: 10.1016/j.atherosclerosis.2019.01.027. PMID: 30731288
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P
Orphanet J Rare Dis 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. PMID: 21599942Free PMC Article
Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.
Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A
J Pathol 2007 May;212(1):112-20. doi: 10.1002/path.2147. PMID: 17354259
Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a.
Chou JY, Zingone A, Pan CJ
Eur J Pediatr 2002 Oct;161 Suppl 1:S56-61. Epub 2002 Jul 19 doi: 10.1007/s00431-002-1005-x. PMID: 12373573
The molecular background of glycogen metabolism disorders.
Elpeleg ON
J Pediatr Endocrinol Metab 1999 May-Jun;12(3):363-79. doi: 10.1515/jpem.1999.12.3.363. PMID: 10821216

Clinical prediction guides

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M
Blood 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. PMID: 32294159Free PMC Article
Glucose-6-phosphate dehydrogenase deficiency and risk of cardiovascular disease: A propensity score-matched study.
Pes GM, Parodi G, Dore MP
Atherosclerosis 2019 Mar;282:148-153. Epub 2019 Jan 28 doi: 10.1016/j.atherosclerosis.2019.01.027. PMID: 30731288
Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.
Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A
J Pathol 2007 May;212(1):112-20. doi: 10.1002/path.2147. PMID: 17354259
The molecular background of glycogen metabolism disorders.
Elpeleg ON
J Pediatr Endocrinol Metab 1999 May-Jun;12(3):363-79. doi: 10.1515/jpem.1999.12.3.363. PMID: 10821216

Recent systematic reviews

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Systematic literature review of the epidemiology of glycogen storage disease type 1a.
Zelei T, Kovács S, Finn P, Nagy D, Sikirica V, Carlson KB, Vokó Z
J Pediatr Endocrinol Metab 2023 Sep 26;36(9):809-817. Epub 2023 Aug 25 doi: 10.1515/jpem-2023-0127. PMID: 37615591

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