• Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage
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Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage

Modern Pediatrics.Ukraine.2020.3(107):67-76; doi 10.15574/SP.2020.107.67
Horobets A. O.1, Berezenko V. S.2, Kozinkevich G. E.1
1Bogomolets National Medical University, Kyiv, Ukraine
2SI "Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine", Kyiv

For citation: Horobets AO, Berezenko VS, Kozinkevich GE. (2020). Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage. Modern Pediatrics. Ukraine. 3(107): 6776; doi 10.15574/SP.2020.107.67
Article received: Dec 18, 2019. Accepted for publication: Apr 11, 2020.

Modern scientific information about glycogen storage disease type I clinical course peculiarities, diagnostics and nutritive management is presented in the article. Glycogen storage disease, or glycogenosis, is an orphan pathology reasoned by glycogen metabolism disorders and its deposition in liver, kidney, intestines and other organs. A special attention is attracted to the glycogen storage diseases actuality in Ukraine caused by the absence of governmental guidelines for treatment and rehabilitation for the most types of the disease. Information about spreading of the disease, its etiology, mechanisms of the development and related pathophysiological violations in different organs and systems of the child's organism is also presented. Clinical picture is described dependently on the glycogen storage disease type (Іа or Іb ones) and the age of manifestation of symptoms. Attention is also attracted to hypoglycemic conditions — typical complication for infants — and to their potentially unfavorable for further physical and psycho-neurological development sequels. Basic aspects of clinical and additive laboratory and instrumental diagnostics and differential diagnostics with disorders accompanied by similar clinical features are given in the article as well. A special attention is accented on nutrition of those patients with glycogen storage disease type I as a basic method of treatment which may both improve quality of patients' life and its longevity and lead in complete resolution of pathological changes in organs and systems. In this part of the article quantitative and qualitative characteristics of feeding ration and its age-dependent peculiarities of children sick with glycogenosis type I are given. Attention is paid to the necessity of corn raw starch prescription, recommendations about calculation of its necessary quantity and regimen of use in different ages are given. Necessity of uninterrupted night feedings in children of the first year of life — an important method of hypoglycemia and its severe complications prevention is explained. Moreover, recommendations of glycemia and lactatemia control are presented. Peculiarities of one of the typical for the disease concomitant disorders as dyslipidemia and such prolonged consequences as osteoporosis and gout are discussed. At the end of the article recommendations which can potentially contribute to the improvement of quality of life of children with glycogenosis type I are described.
Key words: children, glycogen storage disease, glycogenosis, nutritive support, orphan diseases.


1. Baranov AA, Namazova-Baranova LS, Surkov AN, Potapov AS, Bakanov MI, Polyakova SI, Gundobina OS, Lozovator AL. (2012). Glikogenovaya bolezn u detey: uchebnoe posobie (Bolezni detskogo vozrasta ot A do Ya). Moskva: PediatrЪ: Soyuz pediatrov Rossii: 128.

2. Klinicheskaya dietologiya detskogo vozrasta (20e izd.). (2015). Rukovodstvo dlya vracha. Pod red. T.E. Borovik, K.S. Ladodo. Moskva: OOO «Meditsinskoe informatsionnoe agenstvo»: 717.

3. Кондрахина ИИ, Сурков АН, Намазова-Баранова ЛС, Батырова АС, Сновская МА, Кожевникова ОВ, Потапов АС. (2015). Опыт использования системы непрерывного мониторинга содержания глюкозы у детей с гликогеновой болезнью. Клиническая лабораторная диагностика: 60(1): 4–11.

4. Surkov AN. (2019). Glikogenovaya bolezn u detey: novyie aspektyi patogeneza, sovremennyie podhodyi k diagnostike, optimizatsiya vedeniya patsientov. Avtoref. dis. … kand. med. nauk: 14.01.08. Moskva: 27.

5. Alsultan A, Sokol RJ, Lovell MА, Thurman G, Ambruso DR. (2010). Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. Pediatr. Blood Cancer. 55(7): 1410–1413. https://doi.org/10.1002/pbc.22706; PMid:20830779

6. Baheti AD, Yeh MM, O'Malley R, Lalwani N. (2015). Malignant Transformation of Hepatic Adenoma in Glycogen Storage Disease Type-1a: Report of an Exceptional Case Diagnosed on Surveillance Imaging. J Clin Imaging Sci. 5(3): 47. https://doi.org/10.4103/2156-7514.163991; PMid:26430540 PMCid:PMC4584445

7. Beegle RD, Brown LM, Weinstein DA. (2015). Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep. 18: 23–32. https://doi.org/10.1007/8904_2014_344; PMid:25308557 PMCid:PMC4361930

8. Biers SJ, Visser G, Smit PG, Fuchs SA. (2014). Liver transplantation in liver storage disease type I. Orphanet J Rare Dis. 9:47. https://doi.org/10.1186/1750-1172-9-47
PMid:24716823 PMCid:PMC4113191

9. Burda P, Hochuli M. (2015). Hepatic glycogen storage disorders: what have we learned in recent years? Curr. Opin. Clin. Nutr. Metab. Care. 18(4): 415–421. https://doi.org/10.1097/MCO.0000000000000181; PMid:26001652

10. Chou JY, Jun HS, Mansfield BC. (2010). Neutropenia in type Ib glycogen storage disease. Curr. Opin. Hematol. 17(1): 36–42. https://doi.org/10.1097/MOH.0b013e328331df85; PMid:19741523 PMCid:PMC3099242

11. Cohen JS, Biesecker BB. (2010). Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet A. 152A: 1136–1156. https://doi.org/10.1002/ajmg.a.33380; PMid:20425818 PMCid:PMC3113481

12. Correia CE, Bhattacharya K, Lee PJ, Shuster JJ, Theriaque DW, Shankar MN, Smit GP, Weinstein DA. (2008). Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr. 88(5): 1272–1276.

13. Dambska M, Labrador EB, Kuo CL, Weinstein DA. (2017). Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 18(5): 327–331. https://doi.org/10.1111/pedi.12540; PMid:28568353

14. Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. (2011). Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab. 104(1—2): 137—143. https://doi.org/10.1016/j.ymgme.2011.05.010; PMid:21646031

15. Derks TG, Martens DH, Sentner CP, van Rijn M, de Boer F, Smit GP, van Spronsen FJ. (2013). Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? Mol Genet Metab. 109(1): 1—2. https://doi.org/10.1016/j.ymgme.2013.02.005; PMid:23480859

16. Derks TG, van Rijn M. (2015). Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis. 38(3): 537—543. https://doi.org/10.1007/s10545-015-9811-2; PMid:25633903 PMCid:PMC4432100

17. Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N. (2004). Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet. 129A: 162—164. https://doi.org/10.1002/ajmg.a.30232; PMid:15316959

18. Eminoglu FT, Tumer L, Okur I, Ezgu FS, Hasanoglu A. (2013). Clinical properties and disease prognosis in cases of glycogen-storage disease type 1a and type 1b. Turk Arch Ped. 48: 117—122. https://doi.org/10.4274/tpa.185

19. Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V. (1999). Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett. 459(2): 255—258. https://doi.org/10.1016/S0014-5793(99)01248-X

20. Heller S, Worona L, Consuelo A. (2008). Nutritional therapy for glycogen storage diseases. J Pediatr Gastroenterol Nutr. 47 (1): S15—21. https://doi.org/10.1097/MPG.0b013e3181818ea5; PMid:18667910

21. Hicks J, Wartchow E, Mierau G. (2011). Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol. 35(5): 183—196. https://doi.org/10.3109/01913123.2011.601404; PMid:21910565

22. Jun HS, Weinstein DA, Lee YM, Mansfield BC, Chou JY. (2014). Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood. 123(18): 2843—2853. https://doi.org/10.1182/blood-2013-05-502435; PMid:24565827 PMCid:PMC4007611

23. Kasapkara CS, Cinasal DG, Hasanoglu A, Tumer L. (2014). Continuous glucose monitoring in children with glycogen storage disease type I. Eur J Clin Nutr. 68(1): 101—105. https://doi.org/10.1038/ejcn.2013.186; PMid:24149443

24. Kishnani PS, Austin SL, Abdenur JE et al. (2014). Diagnosis and management of glycogen storage diasease type I: a practical guideline of the American College of Medical Genetics and Genomics. Genet Med. 16(11): el. https://doi.org/10.1038/gim.2014.128; PMid:25356975

25. Lawrence NT, Chengsupanimit T, Brown LM, Derks TG, Smit GP, Weinstein DA. (2017). Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia. J Pediatr Gastroenterol Nutr. 64(2): e52-e54. https://doi.org/10.1097/MPG.0000000000000592; PMid:25304890

26. Lee PJ, Dixon MA, Leonard JV. (1996). Uncooked cornstarch-efficacy in type I glycogenosis. Arch Dis Child. 74: 546—547. https://doi.org/10.1136/adc.74.6.546; PMid:8758135 PMCid:PMC1511553

27. Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, DionisiVici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G. (2014). Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. Horm Res Paediatr. 81(1): 55—62. https://doi.org/10.1159/000351022; PMid:24401800

28. Melis D, Cozzolino M, Minopoli G et al. (2015). Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study. J Pediatr. 166(4): 1079—1082. https://doi.org/10.1016/j.jpeds.2014.12.015; PMid:25641239

29. Nalin T, Venema K, Weinstein DA, de Souza CF, Perry ID, van Wandelen MT, van Rijn M, Smit GP, Schwartz IV, Derks TG. (2015). In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. J Inherit Metab Dis. 38(3): 529—536. https://doi.org/10.1007/s10545-014-9763-y; PMid:25224825

30. Ovchinsky N, Moreira RK, Lefkowitch JH, Lavine JE. (2012). Liver biopsy in modern clinical practice: a pediatric point-of-view. Adv Anat Pathol. 19(4): 250—262. https://doi.org/10.1097/PAP.0b013e31825c6a20; PMid:22692288 PMCid:PMC3404724

31. Rousseau-Nepton I, Huot C, Laforte D, Mok E, Fenyves D, Constantin E, Mitchell J. (2018). Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch. Mol Genet Metab. 123 (3): 326—330. https://doi.org/10.1016/j.ymgme.2017.09.003; PMid:29223626

32. Santos BL, Souza CF, Schuler-Faccini L, Refosco L, Epifanio M, Nalin T, Vieira SM, Schwartz IV. (2014). Glycogen storage disease type I: clinical and laboratory profile. J Pediatr (Rio J). 90(6): 572—579. https://doi.org/10.1016/j.jpedp.2014.08.002