| Description: |
Glycogen storage disease type Ib (GSD Ib) — is a disease from the group of hereditary metabolic diseases caused by insufficiency of the glucose-6-phosphate transporter (G6PT, SLC37A4), which leads to a violation of both glycogenolysis and gluconeogenesis and, as a consequence, to excessive accumulation of glycogen and fat in the liver, kidneys and intestinal mucosa. The main clinical manifestations and laboratory data include growth retardation, hepatomegaly, hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Complications of this disease are hepatocellular adenoma with a possible risk of malignancy, nephropathy and osteoporosis. A specific sign of GSD Ib is neutropenia with impaired neutrophil function, which creates prerequisites for recurrent infections and the development of inflammatory bowel disease. Until the present, enzyme replacement therapy of GSD Ib has not been developed, therefore, the main methods of treatment are a specialized diet with the addition of raw corn starch (for relief of hypoglycemia) and the use of granulocyte colony stimulating factor (for relief of neutropenia). However, the recent establishment of the role of 1,5-anhydroglucitol in the pathogenesis of neutrophil dysfunction in GSD Ib has led to a reprofiling of indications for the use of empagliflozin, a type 2 renal sodium—glucose cotransporter inhibitor (SGLT2). In the modern literature, it is reported about a minor, but very successful experience of its use in patients with GSD Ib (outside the framework of official indications for use) and a beneficial effect on neutrophil dysfunction and its clinical consequences. Oddly enough, this hypoglycemic drug improved not only metabolic, but also glycemic control in patients with GSD Ib, despite the fact that the pathology is based on chronic hypoglycemia. More and more evidence points to the role of empagliflozin in the regulation of cellular homeostasis (for example, fatty acid metabolism, glucose, cholesterol, apoptosis and cell proliferation, in particular in the ... |
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https://www.pedpharma.ru/jour/article/view/2361/1535; Chou JY, Jun HS, Mansfield BC. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis. 2015;38(3):511–519. doi: https://doi.org/10.1007/s10545-014-9772-x; Сурков А.Н. Гликогеновая болезнь у детей: современные представления (часть I) // Вопросы современной педиатрии. — 2012. — Т. 11. — № 2. — С. 30–42. — doi: https://doi.org/10.15690/vsp.v11i2.208; Veiga-da-Cunha M, Gerin I, Chen Y-T, et al. A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet. 1998;63(4):976–983. doi: https://doi.org/10.1086/302068; Баранов А.А., Намазова-Баранова Л.С., Сурков А.Н. и др. Гликогеновая болезнь у детей: учебное пособие. — М.: ПедиатрЪ; 2012. — 128 с.; Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American college of medical genetics and genomics. Genet Med. 2014;16(11):e1–e29. doi: https://doi.org/10.1038/gim.2014.128; Visser G, Rake J-P, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I. J Pediatr. 2000;137(2):187–191. doi: https://doi.org/10.1067/mpd.2000.105232; Chen MA, Weinstein DA. Glycogen storage diseases: diagnosis, treatment and outcome. Transl Sci Rare Dis. 2016;1:45–72. doi: https://doi.org/10.3233/TRD-160006; Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136(9):1033–1043. doi: https://doi.org/10.1182/blood.2019004465; Veiga-da-Cunha M, Chevalier N, Stephenne X, et al. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci USA. 2019;116(4):1241–1250. doi: https://doi.org/10.1073/pnas.1816143116; Yamanouchi T, Tachibana Y, Akanuma H, et al. Origin and disposal of 1,5-anhydroglucitol, a major polyol in the human body. Am J Physiol Metab. 1992;263(2 Pt 1):E268–E273. doi: https://doi.org/10.1152/ajpendo.1992.263.2.E268; Crane RK, Sols A. The non-competitive inhibition of brain hexokinase by glucose-6-Phosphate and related compounds. J Biol Chem. 1954;210(2):597–606. doi: https://doi.org/10.1016/S0021-9258(18)65385-2; Maiorana A, Tagliaferri F, Dionisi-Vici C. Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders. Front Endocrinol (Lausanne). 2023;14:1145111. doi: https://doi.org/10.3389/fendo.2023.1145111; Melis D, Parenti G, Della Casa R, et al. Crohn’s-like ileo-colitis in patients affected by glycogen storage disease Ib: two years’ follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr. 2003;92(12):1415–1421. doi: https://doi.org/10.1080/08035250310007033; Wicker C, Roda C, Perry A, et al. Infectious and digestive complications in glycogen storage disease type Ib: study of a French cohort. Mol Genet Metab Rep. 2020;23:100581. doi: https://doi.org/10.1016/j.ymgmr.2020.100581; Rake JP, Visser G, Labrune P, et al. European Study on glycogen storage disease type I (ESGSD I). Guidelines for management of glycogen storage disease type I — European study on glycogen storage disease type I (ESGSD I). Eur J Pediatr. 2002;161 Suppl:S112–S119. doi: https://doi.org/10.1007/s00431-002-1016-7; Visser G, Rake J, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b — European study on glycogen storage disease type 1. Eur J Pediatr. 2002;161 Suppl:S120–S123. doi: https://doi.org/10.1007/s00431-002-1017-6; Сурков А.Н., Черников В.В., Баранов А.А. и др. Результаты оценки качества жизни детей с печеночной формой гликогеновой болезни // Педиатрическая фармакология. — 2013. — Т. 10. — № 4. — С. 90–94. — doi: https://doi.org/10.15690/pf.v10i4.759; Visser G, Rake J, Labrune P, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1. Eur J Pediatr. 2002;161 Suppl:S83–S87. doi: https://doi.org/10.1007/s00431-002-1010-0; Li AM, Thyagu S, Maze D, et al. Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length. Pediatr Hematol Oncol. 2018;35(1):45–51. doi: https://doi.org/10.1080/08880018.2018.1440675; Dale DC, Bolyard AA, Marrero T, et al. Neutropenia in glycogen storage disease Ib. Curr Opin Hematol. 2019;26:16–21. doi: https://doi.org/10.1097/MOH.0000000000000474; Boulanger C, Stephenne X, Diederich J, et al. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: impact of a mutation in SGLT5. J Inherit Metab Dis. 2022;45(4):759–768. doi: https://doi.org/10.1002/jimd.12509; Makrilakis K, Barmpagianni A, Veiga-da-Cunha M. Repurposing of empagliflozin as a possible treatment for neutropenia and inflammatory bowel disease in glycogen storage disease type Ib: a case report. Cureus. 2022;14(7):12–15. doi: https://doi.org/10.7759/cureus.27264; Akanuma Y, Morita M, Fukuzawa N, et al. Urinary excretion of 1,5-anhydro-D-glucitol accompanying glucose excretion in diabetic patients. Diabetologia. 1988;31(11):831–835. doi: https://doi.org/10.1007/BF00277486; Chao EC, Henry RR. SGLT2 inhibition — a novel strategy for diabetes treatment. Nat Rev Drug Discov. 2010;9(7):551–559. doi: https://doi.org/10.1038/nrd3180; Fortuna D, McCloskey LJ, Stickle DF. Model analysis of effect of canagliflozin (Invokana), a sodium–glucose cotransporter 2 inhibitor, to alter plasma 1,5-anhydroglucitol. Clin Chim Acta. 2016;452:138–141. doi: https://doi.org/10.1016/j.cca.2015.11.010; DeFronzo RA, Hompesch M, Kasichayanula S, et al. Characterization of renal glucose reabsorption in response to dapagliflozin in healthy subjects and subjects with type 2 diabetes. Diabetes Care. 2013;36(10):3169–3176. doi: https://doi.org/10.2337/dc13-0387; Grünert SC, Elling R, Maag B, et al. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. Orphanet J Rare Dis. 2020;15(1):218. doi: https://doi.org/10.1186/s13023-020-01503-8; Rossi A, Miele E, Fecarotta S, et al. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report. Ital J Pediatr. 2021;47(1):149. doi: https://doi.org/10.1186/s13052-021-01100-w; Ceccarani C, Bassanini G, Montanari C, et al. Proteobacteria overgrowth and butyrate-producing taxa depletion in the gut microbiota of glycogen storage disease type 1 patients. Metabolites. 2020;10(4):133. doi: https://doi.org/10.3390/metabo10040133; Mikami M, Arai A, Mizumoto H. Empagliflozin ameliorated neutropenia in a girl with glycogen storage disease Ib. Pediatr Int. 2021;63(11):1394–1396. doi: https://doi.org/10.1111/ped.14629; Kaczor M, Greczan M, Kierus K, et al. Sodium-glucose cotransporter type 2 channel inhibitor: breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b? JIMD Rep. 2022;63(3):199–206. doi: https://doi.org/10.1002/jmd2.12278; Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib. JIMD Rep. 2022;63(4):303–308. doi: https://doi.org/10.1002/jmd2.12295; Halligan RK, Dalton RN, Turner C, et al. Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre. Orphanet J Rare Dis. 2022;17(1):195. doi: https://doi.org/10.1186/s13023-022-02345-2; Bidiuk J, Gaciong Z, Sobieraj P. The overall benefits of empagliflozin treatment in adult siblings with glycogen storage disease type Ib: one year experience. Arch Med Sci. 2022;18(4):1095–1099. doi: https://doi.org/10.5114/aoms/150029; Hexner-Erlichman Z, Veiga-da-Cunha M, Zehavi Y, et al. Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients. Front Pediatr. 2022;10:1071464. doi: https://doi.org/10.3389/fped.2022.1071464; Tallis E, Karsenty CL, Grimes AB, et al. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022;63(4):309–315. doi: https://doi.org/10.1002/jmd2.12304; Mathis T, Poms M, Köfeler H, et al. Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. J Inherit Metab Dis. 2022;45(2):235–247. doi: https://doi.org/10.1002/jimd.12451; Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med. 2022;24(8):1781–1788. doi: https://doi.org/10.1016/j.gim.2022.04.001; Rajas F, Labrune P, Mithieux G. Glycogen storage disease type 1 and diabetes: learning by comparing and contrasting the two disorders. Diabetes Metab. 2013;39(5):377–877. doi: https://doi.org/10.1016/j.diabet.2013.03.002; Курбатова О.В., Измайлова Т.Д., Сурков А.Н. и др. Митохондриальная дисфункция у детей с печеночными формами гликогеновой болезни // Вестник Российской академии медицинских наук. — 2014. — Т. 69. — № 7-8. — С. 78–84. — doi: https://doi.org/10.15690/vramn.v69i7-8.1112; Melis D, Rossi A, Pivonello R, et al. Glycogen storage disease type ia (GSD Ia) but not glycogen storage disease type Ib (GSD Ib) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. Orphanet J Rare Dis. 2015;10:91. doi: https://doi.org/10.1186/s13023-015-0301-2; Rossi A, Simeoli C, Salerno M, et al. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement. Orphanet J Rare Dis. 2020;15(1):99. doi: https://doi.org/10.1186/s13023-020-01377-w; Rossi A, Ruoppolo M, Formisano P, et al. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? J Inherit Metab Dis. 2018;41(6):985–995. doi: https://doi.org/10.1007/s10545-018-0149-4; Bhattacharya K. Dietary dilemmas in the management of glycogen storage disease type I. J Inherit Metab Dis. 2011;34(3):621–629. doi: https://doi.org/10.1007/s10545-011-9322-8; Dahlberg KR, Ferrecchia IA, Dambska-Williams M, et al. Cornstarch requirements of the adult glycogen storage disease Ia population: a retrospective review. J Inherit Metab Dis. 2020;43(2):269–278. doi: https://doi.org/10.1002/jimd.12160; Rossi A, Hoogeveen IJ, Bastek VB, et al. Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies, and future recommendations. J Inherit Metab Dis. 2020;43(4):770–777. doi: https://doi.org/10.1002/jimd.12224; Qian H, Chao X, Williams J, et al. Autophagy in liver diseases: a review. Mol Aspects Med. 2021;82:100973. doi: https://doi.org/10.1016/j.mam.2021.100973; Halaby CA, Young SP, Austin S, et al. Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med. 2019;21(12):2686–2694. doi: https://doi.org/10.1038/s41436-019-0561-7; Gautam S, Zhang L, Lee C, et al. Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib. Hum Mol Genet. 2023;32(2):262–275. doi: https://doi.org/10.1093/hmg/ddac197; Busch V, Gempel K, Hack A, et al. Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005;58(2):341. doi: https://doi.org/10.1002/ana.20565; Vorgerd M, Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myol. 2007;26(1):61–63.; Løkken N, Hansen KK, Storgaard JH, et al. Titrating a modified ketogenic diet for patients with McArdle disease: a pilot study. J Inherit Metab Dis. 2020;43(4):778–786. doi: https://doi.org/10.1002/jimd.12223; Similä ME, Auranen M, Piirilä PL. Beneficial effects of ketogenic diet on phosphofructokinase deficiency (Glycogen storage disease type VII). Front Neurol. 2020;11:57. doi: https://doi.org/10.3389/fneur.2020.00057; Donnan JR, Grandy CA, Chibrikov E, et al. Comparative safety of the sodium glucose co-transporter 2 (SGLT2) inhibitors: a systematic review and meta-analysis. BMJ Open. 2019;9(1):e02257. doi: https://doi.org/10.1136/bmjopen-2018-022577; Rosenstock J, Jelaska A, Frappin G, et al. Improved glucose control with weight loss, lower insulin doses, and no increased hypoglycemia with empagliflozin added to titrated multiple daily injections of insulin in obese inadequately controlled type 2 diabetes. Diabetes Care. 2014;37(7):1815–1823. doi: https://doi.org/10.2337/dc13-3055; dos Santos SS, Ramaldes LA, Gabbay MAL, et al. Use of a sodium-glucose cotransporter 2 inhibitor, empagliflozin, in a patient with rabson-mendenhall syndrome. Horm Res Paediatr. 2021;94(7-8):313–316. doi: https://doi.org/10.1159/000519613; Galderisi A, Tamborlane W, Taylor SI, et al. SGLT2i improves glycemic control in patients with congenital severe insulin resistance. Pediatrics. 2022;150(1):e2021055671. doi: https://doi.org/10.1542/peds.2021-055671; Chen Y-T, Kishnani PS, Koeberl D. Glycogen storage diseases. In: The online metabolic and molecular bases of inherited disease. Valle DL, Antonarakis S, Ballabio A, et al., eds. New York, NY: McGraw-Hill Education; 2019. Available online: https://ommbid.mhmedical.com/content.aspx?aid=1181420647. Accessed on October 17, 2023.; Ng ES-T, Gupta S, Khin SM, Mak A. Gout, anemia, and hepatomegaly in a young man with glycogen storage disease. JCR J Clin Rheumatol. 2012;18(4):222–223. doi: https://doi.org/10.1097/RHU.0b013e3182598ed1; Ouchi M, Oba K, Aoyama J, et al. Serum uric acid in relation to serum 1,5-anhydroglucitol levels in patients with and without type 2 diabetes mellitus. Clin Biochem. 2013;46(15):1436–1441. doi: https://doi.org/10.1016/j.clinbiochem.2013.06.003; https://www.pedpharma.ru/jour/article/view/2361 |