Research & Literature

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.

Ross KM, Brown LM, Corrado MM, et al.

JIMD reports 2016; (26()):85-90 doi:10.1007/8904_2015_488.

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.

Kiykim A, Baris S, Karakoc-Aydiner E, et al.

Journal of pediatric hematology/oncology 2015; (37(8)):616-22 doi:10.1097/MPH.0000000000000441.

Investigation and management of the hepatic glycogen storage diseases.

Bhattacharya K

Translational pediatrics 2015; (4(3)):240-8 doi:10.3978/j.issn.2224-4336.2015.04.07.

Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration.

Kim GY, Lee YM, Kwon JH, et al.

Biochemical and biophysical research communications 2017; (482(4)):569-574 doi:10.1016/j.bbrc.2016.11.075.

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.

Oster Y, Wexler ID, Heyman SN, Fried E

Case reports in medicine 2016; (2016()):4362743 doi:10.1155/2016/4362743.

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.

Dambska M, Labrador EB, Kuo CL, Weinstein DA

Pediatric diabetes 2017; (18(5)):327-331 doi:10.1111/pedi.12540.

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Skakic A, Djordjevic M, Sarajlija A, et al.

Clinical genetics 2018; (93(2)):350-355 doi:10.1111/cge.13093.

Patients with glycogen storage diseases undergoing anesthesia: a case series.

Gurrieri C, Sprung J, Weingarten TN, Warner ME

BMC anesthesiology 2017; (17(1)):134 doi:10.1186/s12871-017-0428-x.

Dietary Therapy for Von Gierke's Disease: A Case Report.

Raza M, Arif F, Giyanwani PR, et al.

Cureus 2017; (9(8)):e1548 doi:10.7759/cureus.1548.

Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.

Rousseau-Nepton I, Huot C, Laforte D, et al.

Molecular genetics and metabolism 2018; (123(3)):326-330 doi:10.1016/j.ymgme.2017.09.003.

Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.

Mehyar LS, Abu-Arja R, Rangarajan HG, et al.

Bone marrow transplantation 2018; (53(8)):1076-1078 doi:10.1038/s41409-018-0147-z.

Role of continuous glucose monitoring in the management of glycogen storage disorders.

Herbert M, Pendyal S, Rairikar M, et al.

Journal of inherited metabolic disease 2018; (41(6)):917-927 doi:10.1007/s10545-018-0200-5.

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.

Chen ZY, Liu YP, Zheng GJ

Annals of hepatology 2018; (17(6)):903-905 doi:10.5604/01.3001.0012.7189.

Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.

Veiga-da-Cunha M, Chevalier N, Stephenne X, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(4)):1241-1250 doi:10.1073/pnas.1816143116.

Molecular diagnosis of glycogen storage disease type I: a review.

Beyzaei Z, Geramizadeh B

EXCLI journal 2019; (18()):30-46.

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.

Wang W, Yu R, Tan W, et al.

BMC medical genetics 2019; (20(1)):85 doi:10.1186/s12881-019-0816-9.

Hepatocellular adenoma: An unsolved diagnostic enigma.

Renzulli M, Clemente A, Tovoli F, et al.

World journal of gastroenterology 2019; (25(20)):2442-2449 doi:10.3748/wjg.v25.i20.2442.

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Zhou J, Waskowicz LR, Lim A, et al.

Thyroid : official journal of the American Thyroid Association 2019; (29(8)):1158-1167 doi:10.1089/thy.2019.0007.

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, et al.

Molecular genetics & genomic medicine 2019; (7(11)):e877 doi:10.1002/mgg3.877.

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

Bilal H, Cheema HA, Fayyaz Z, et al.

Journal of Ayub Medical College, Abbottabad : JAMC 2019; (31(3)):368-371.

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.

Zhang Y, Sun H, Wan N

The Journal of international medical research 2019; (47(12)):5996-6003 doi:10.1177/0300060519867819.

Glucose-6 Phosphate, A Central Hub for Liver Carbohydrate Metabolism.

Rajas F, Gautier-Stein A, Mithieux G

Metabolites 2019; (9(12)) doi:10.3390/metabo9120282.

A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor.

Khalaf D, Bell H, Dale D, et al.

JIMD reports 2019; (49(1)):37-42 doi:10.1002/jmd2.12069.

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study.

Jang HJ, Yang HR, Ko JS, et al.

Journal of Korean medical science 2020; (35(1)):e5 doi:10.3346/jkms.2020.35.e5.

Hepatic Resection and Transplant in Glycogen Storage Diseases.

Singh N, El-Hinnawi A, Hill B, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2022; (20(6)):609-612 doi:10.6002/ect.2019.0313.

Hepatic Carbohydrate Response Element Binding Protein Activation Limits Nonalcoholic Fatty Liver Disease Development in a Mouse Model for Glycogen Storage Disease Type 1a.

Lei Y, Hoogerland JA, Bloks VW, et al.

Hepatology (Baltimore, Md.) 2020; (72(5)):1638-1653 doi:10.1002/hep.31198.

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.

Wortmann SB, Van Hove JLK, Derks TGJ, et al.

Blood 2020; (136(9)):1033-1043 doi:10.1182/blood.2019004465.

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients.

Aoun B, Sanjad S, Degheili JA, et al.

Frontiers in pediatrics 2020; (8()):591 doi:10.3389/fped.2020.00591.

The absence of hepatic glucose-6 phosphatase/ChREBP couple is incompatible with survival in mice.

Rajas F, Dentin R, Cannella Miliano A, et al.

Molecular metabolism 2021; (43()):101108 doi:10.1016/j.molmet.2020.101108.

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Xu Q, Tang H, Duan L, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1568 doi:10.1002/mgg3.1568.

Uncooked cornstarch for the prevention of hypoglycemic events.

Della Pepa G, Vetrani C, Lupoli R, et al.

Critical reviews in food science and nutrition 2022; (62(12)):3250-3263 doi:10.1080/10408398.2020.1864617.

[Advances on the management of renal lesion in glycogen storage disease type I].

Wu WC, Wang JS

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2021; (29(1)):75-78 doi:10.3760/cma.j.cn501113-20201230-00687.

Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.

Hoogerland JA, Peeks F, Hijmans BS, et al.

Journal of inherited metabolic disease 2021; (44(4)):879-892 doi:10.1002/jimd.12380.

A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.

Li X, Jing H, Cheng L, et al.

Quantitative imaging in medicine and surgery 2021; (11(6)):2785-2791 doi:10.21037/qims-20-746.

Impact of glycogen storage disease type I on adult daily life: a survey.

Garbade SF, Ederer V, Burgard P, et al.

Orphanet journal of rare diseases 2021; (16(1)):371 doi:10.1186/s13023-021-02006-w.

Glycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.

Schmitt J, Wurm M, Schwab KO, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2021; (31(12)):3384-3392 doi:10.1016/j.numecd.2021.08.027.

Hepatopathy Associated With Type 1 Diabetes: Distinguishing Non-alcoholic Fatty Liver Disease From Glycogenic Hepatopathy.

Mertens J, De Block C, Spinhoven M, et al.

Frontiers in pharmacology 2021; (12()):768576 doi:10.3389/fphar.2021.768576.

Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib.

Sim SW, Jang Y, Park TS, et al.

Cellular and molecular life sciences : CMLS 2022; (79(5)):246 doi:10.1007/s00018-022-04267-5.

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.

Boulanger C, Stephenne X, Diederich J, et al.

Journal of inherited metabolic disease 2022; (45(4)):759-768 doi:10.1002/jimd.12509.

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review.

Rossi A, Rutten MGS, van Dijk TH, et al.

Frontiers in endocrinology 2022; (13()):858832 doi:10.3389/fendo.2022.858832.

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Tallis E, Karsenty CL, Grimes AB, et al.

JIMD reports 2022; (63(4)):309-315 doi:10.1002/jmd2.12304.

Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report.

Makrilakis K, Barmpagianni A, Veiga-da-Cunha M

Cureus 2022; (14(7)):e27264 doi:10.7759/cureus.27264.

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I.

Sato T, Inokuchi M, Nakano S, et al.

Radiology case reports 2023; (18(1)):91-93 doi:10.1016/j.radcr.2022.09.084.

Anesthetic management for dental surgery in a child with glycogen storage disease type IIIa: a case report.

Aykenar B, Çekmen N

Journal of dental anesthesia and pain medicine 2022; (22(6)):451-455 doi:10.17245/jdapm.2022.22.6.451.

Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia.

Arnson B, Kang HR, Brooks ED, et al.

Molecular therapy. Methods & clinical development 2023; (29()):108-119 doi:10.1016/j.omtm.2023.03.001.

Platelet glycogenolysis is important for energy production and function.

Prakhya KS, Vekaria H, Coenen DM, et al.

Platelets 2023; (34(1)):2222184 doi:10.1080/09537104.2023.2222184.

Systematic literature review of the epidemiology of glycogen storage disease type 1a.

Zelei T, Kovács S, Finn P, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(9)):809-817 doi:10.1515/jpem-2023-0127.

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.

Gul B, Firasat S, Shan T, et al.

PloS one 2023; (18(11)):e0288965 doi:10.1371/journal.pone.0288965.

Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.

Kaczor M, Malicki S, Folkert J, et al.

Blood advances 2024; (8(11)):2790-2802 doi:10.1182/bloodadvances.2023012403.

The role of glucose-6-phosphatase activity in glucose homeostasis and its potential for diabetes therapy.

Tan LS, Lau HH, Abdelalim EM, et al.

Trends in molecular medicine 2025; (31(2)):152-164 doi:10.1016/j.molmed.2024.09.005.

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

Zhang X, Su Z, Wu J, et al.

Orphanet journal of rare diseases 2025; (20(1)):41 doi:10.1186/s13023-025-03570-1.

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Schumann A, Garbade SF, Beblo S, et al.

Molecular genetics and metabolism 2025; (144(3)):109054 doi:10.1016/j.ymgme.2025.109054.

Efficacy of magnetic resonance imaging in managing glycogen storage disease.

Ahn JH, Jeong YW, Choi YB, Kang Y

Orphanet journal of rare diseases 2025; (20(1)):144 doi:10.1186/s13023-025-03605-7.

Hypoglycaemic Unawareness in a Glycogen Storage Disorder Patient: A Case Report and Review of the Literature.

Alkundi A, Momoh R

Cureus 2025; (17(4)):e81805 doi:10.7759/cureus.81805.

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Hamdeh MA, Jaber L, Abdullah J, et al.

JIMD reports 2025; (66(3)):e70024 doi:10.1002/jmd2.70024.

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Milosevic MD, Skakic A, Kecman B, et al.

Molecular diagnosis & therapy 2025; (29(5)):655-673 doi:10.1007/s40291-025-00795-5.

Efficacious genome editing in infant mice with glycogen storage disease type Ia.

Arnson B, Ilich E, von Beck T, et al.

JCI insight 2025; (10(18)).

Is primary hemostasis involved in bleeding diathesis in patients with type 1 glycogen storage disease?

Devaux F, Auditeau C, Bally C, et al.

Thrombosis research 2025; (253()):109424 doi:10.1016/j.thromres.2025.109424.

Structural basis of G6P/Pi transport and inhibition in SLC37A4.

Zhou D, Zhang Y, Chen N, et al.

Nature structural & molecular biology 2025; doi:10.1038/s41594-025-01711-5.

Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.

Chaudhary A, Tripathi S, Jain S, Singh SN

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-267630.

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Elangovan A, Bali A, Vellingiri B, Wander A

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-265290.

Safety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.

Chen Z, Sun Z, Li G, Bu H

Acta diabetologica 2026; (63(4)):629-644 doi:10.1007/s00592-025-02627-8.