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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
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C
J Pediatr 2012 Apr;160(4):679-683.e2. Epub 2011 Nov 1 doi: 10.1016/j.jpeds.2011.09.019. PMID: 22050868

Recent clinical studies

Etiology

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
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

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
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
Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.
Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM
J Clin Invest 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. PMID: 4341015Free PMC Article

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
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C
J Pediatr 2012 Apr;160(4):679-683.e2. Epub 2011 Nov 1 doi: 10.1016/j.jpeds.2011.09.019. PMID: 22050868
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
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
Glycogenosis type I (glucose 6-phosphatase deficiency): I. Ultrastructural morphometric analysis of juvenile liver cells.
Riede UN, Spycher MA, Gitzelmann R
Pathol Res Pract 1980 May;167(1):136-50. doi: 10.1016/S0344-0338(80)80185-3. PMID: 6935637

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
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C
J Pediatr 2012 Apr;160(4):679-683.e2. Epub 2011 Nov 1 doi: 10.1016/j.jpeds.2011.09.019. PMID: 22050868
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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