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Glycogen storage disease type 1 due to SLC37A4 mutation

MedGen UID:
419390
•Concept ID:
C2931345
•
Disease or Syndrome
Synonyms: G6P translocase deficiency; Glucose-6-phosphate translocase deficiency
 
Monarch Initiative: MONDO:0023258

Definition

Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. [from MONDO]

Professional guidelines

PubMed

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.
Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M
Eur J Med Genet 2020 Mar;63(3):103767. Epub 2019 Sep 16 doi: 10.1016/j.ejmg.2019.103767. PMID: 31536830
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A
Eur J Pediatr 2005 Aug;164(8):501-8. Epub 2005 May 19 doi: 10.1007/s00431-005-1657-4. PMID: 15906092
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D, Seydewitz HH, Bali D, Lang C, Chen YT
Eur J Pediatr 2002 Oct;161 Suppl 1:S10-9. Epub 2002 Jul 27 doi: 10.1007/s00431-002-0998-5. PMID: 12373566

Recent clinical studies

Etiology

Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.
Li Z, Zhang X, Chen H, Zeng H, Wu J, Wang Y, Ma N, Lan J, Zhang Y, Niu H, Shang L, Jiang X, Yang M
Sci Rep 2024 Apr 15;14(1):8630. doi: 10.1038/s41598-024-59320-z. PMID: 38622211Free PMC Article
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D
J Inherit Metab Dis 2018 Nov;41(6):985-995. Epub 2018 Feb 12 doi: 10.1007/s10545-018-0149-4. PMID: 29435782
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
Molecular genetics of type 1 glycogen storage disease.
Janecke AR, Mayatepek E, Utermann G
Mol Genet Metab 2001 Jun;73(2):117-25. doi: 10.1006/mgme.2001.3179. PMID: 11386847
How many forms of glycogen storage disease type I?
Veiga-da-Cunha M, Gerin I, Van Schaftingen E
Eur J Pediatr 2000 May;159(5):314-8. doi: 10.1007/s004310051279. PMID: 10834514

Diagnosis

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z, Zhao R, Jia X, Li X, Ma L, Fu H
J Int Med Res 2023 Dec;51(12):3000605231216633. doi: 10.1177/03000605231216633. PMID: 38087503Free PMC Article
Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
Ahmed S, Akbar F, Ali AJ, Afroze B
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):373-385. Epub 2022 Jan 6 doi: 10.1515/jpem-2021-0575. PMID: 34989216
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH
Ann Lab Med 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261. PMID: 28224773Free 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
How many forms of glycogen storage disease type I?
Veiga-da-Cunha M, Gerin I, Van Schaftingen E
Eur J Pediatr 2000 May;159(5):314-8. doi: 10.1007/s004310051279. PMID: 10834514

Therapy

Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.
Li Z, Zhang X, Chen H, Zeng H, Wu J, Wang Y, Ma N, Lan J, Zhang Y, Niu H, Shang L, Jiang X, Yang M
Sci Rep 2024 Apr 15;14(1):8630. doi: 10.1038/s41598-024-59320-z. PMID: 38622211Free PMC Article
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Shao YX, Liang CL, Su YY, Lin YT, Lu ZK, Lin RZ, Zhou ZZ, Zeng CH, Tao CY, Liu ZC, Zhang W, Liu L
Orphanet J Rare Dis 2024 Apr 11;19(1):155. doi: 10.1186/s13023-024-03137-6. PMID: 38605407Free PMC Article
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
Boulanger C, Stephenne X, Diederich J, Mounkoro P, Chevalier N, Ferster A, Van Schaftingen E, Veiga-da-Cunha M
J Inherit Metab Dis 2022 Jul;45(4):759-768. Epub 2022 May 24 doi: 10.1002/jimd.12509. PMID: 35506446Free PMC Article
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.
Zhang Y, Sun H, Wan N
J Int Med Res 2019 Dec;47(12):5996-6003. Epub 2019 Oct 16 doi: 10.1177/0300060519867819. PMID: 31617422Free PMC Article
Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
Oguz MM, Aykan E, Yilmaz G, Aytekin C, Karaer K, Açoğlu EA
Genet Couns 2014;25(4):389-94. PMID: 25804016

Prognosis

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Shao YX, Liang CL, Su YY, Lin YT, Lu ZK, Lin RZ, Zhou ZZ, Zeng CH, Tao CY, Liu ZC, Zhang W, Liu L
Orphanet J Rare Dis 2024 Apr 11;19(1):155. doi: 10.1186/s13023-024-03137-6. PMID: 38605407Free PMC Article
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Eghbali M, Abiri M, Talebi S, Noroozi Z, Shakiba M, Rostami P, Alimadadi H, Najafi M, Yazarlou F, Rabbani A, Modarressi MH
Orphanet J Rare Dis 2020 Jan 31;15(1):35. doi: 10.1186/s13023-019-1266-3. PMID: 32005221Free PMC Article
Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.
Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M
Eur J Med Genet 2020 Mar;63(3):103767. Epub 2019 Sep 16 doi: 10.1016/j.ejmg.2019.103767. PMID: 31536830
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
New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.
van de Werve G, Lange A, Newgard C, Méchin MC, Li Y, Berteloot A
Eur J Biochem 2000 Mar;267(6):1533-49. doi: 10.1046/j.1432-1327.2000.01160.x. PMID: 10712583

Clinical prediction guides

Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.
Li Z, Zhang X, Chen H, Zeng H, Wu J, Wang Y, Ma N, Lan J, Zhang Y, Niu H, Shang L, Jiang X, Yang M
Sci Rep 2024 Apr 15;14(1):8630. doi: 10.1038/s41598-024-59320-z. PMID: 38622211Free PMC Article
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Eghbali M, Abiri M, Talebi S, Noroozi Z, Shakiba M, Rostami P, Alimadadi H, Najafi M, Yazarlou F, Rabbani A, Modarressi MH
Orphanet J Rare Dis 2020 Jan 31;15(1):35. doi: 10.1186/s13023-019-1266-3. PMID: 32005221Free PMC Article
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR
J Inherit Metab Dis 2005;28(6):939-44. doi: 10.1007/s10545-005-0186-7. PMID: 16435186
Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.
Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF
Prenat Diagn 2000 Sep;20(9):765-8. doi: 10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.co;2-s. PMID: 11015710
New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.
van de Werve G, Lange A, Newgard C, Méchin MC, Li Y, Berteloot A
Eur J Biochem 2000 Mar;267(6):1533-49. doi: 10.1046/j.1432-1327.2000.01160.x. PMID: 10712583

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