ABC | Volume 114, Nº4, Suplement, April 2020

Case Report Ballavenuto et al. Glycogen Storage Disease Type I: Report of two cases Arq Bras Cardiol 2020; 114(4Suppl.1):23-26 1. Wang DQ, Fiske LM, Carreras CT, Weinstein DA. Natural history of hepatocellular adenoma formation in glycogen storage diseases type I. J Pediatr. 2011;159(3):442-6. 2. Reis CVS, Penna FJ, Oliveira MCC, Roquete MLV. Glicogenose tipo I. J Ped 1999;75(4):277-35. 3. Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert- Buron A, et al. Glucose-6-phosphatase deficiency. Orphanet J. Rare Dis. 2011;6:27. 4. Vivatrat N, Barshop BA, Jones KL. Severe Hypertriglyceridemia and Recurrent pancreatitis in a girl with Type Ia Glycogen Storage Disease and Type III Hyperlipoproteinemia. Am J MedGenet A. 2009;149A(11):2557-9. 5. Marcolongo P, Fulceri R , Gamberucci A, Czegle I, Banhegyi G, Benedetti A. Multiple roles of glucose-6-phosphatases in pathophysiology State of the art and future trends. Biochim et Biophys Acta. 2013; 1830(3):2608-18. 6. Bandsma RH, Smit GP, Kuipers F. Disturbed lipid metabolism in glycogen storage disease type; Eur J Pediatr. 2002;161(Suppl 1):S65-S69. 7. Rake JP, Visser G, Labrune P, Leonard JV, Ulrich K, Smith GPA. Guidelines for managementofglycogendiseasetypeI.EuropeanStudyonGlycogenStorage Disease Type I (ESGSD I). Eur J Pediatric. 2002;161(Suppl 1):S112-S119. 8. Lee PJ, Celermayer DS, Robinson J, Mc Carty SN, Betteridge DJ, Leonard JV. Hyperlipidemia does not impair vascular endothelial function in glycogen storage type Ia. Atherosclerosis. 1994;110(1):95-100. 9. Bernier AV, Correia CE, Haller MJ, Theriaque DW, Shuster JJ, Weinstein DA. Vascular dysfunction in glycogen storage disease type I. J Pediatr. 2009; 154(4):588–91. 10. Derks TG, van Rijn M. Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. 10. J Inherit 10. Metab10. Dis. 2015;38(3):537-43. 11. Yekeler E, Dursun M, Emeksiz E, Akkoyunlu M, Akyol Y, Demir F, et al. ctremature atherosclerosis by endothelial dysfunction and increased intima- mediathickness in glycogen storage disease types Ia and III. 11. Turk J 11. Pediatr11. 2007;49(2):115-9. 12. Fernandes J, Smit Gpa, Berger R. Outcome of the treatment of glycogen storage disease. Acta Paediatr Jpn.1998;30:57-61. 13. Kelsch RC, Oliver WJ. Studies on dietary correction of metabolic abnormalities in hepatorenal glycogenosis. Pediatr Res. 1969;3(2):160-70. 14. Moses SW. Historical highlights and unresolved problems in glycogen storage disease type I. Eur J Pediatr. 2002;161(Suppl 1):S2-S9. References This is an open-access article distributed under the terms of the Creative Commons Attribution License The clinical management of GSPIa still requires a better understanding of the pathology and, for this reason, further studies should be performed in this respect. Conclusion GSPIa is a rare and underdiagnosed disease, which evolves with severe dyslipidemia, among other complications. Early diagnosis and the establishment of efficient therapy contribute to increase the life expectancy of these patients. Author contributions Conception and design of the research, analysis and interpretation of the data, writing of the manuscript and critical revision of the manuscript for intellectual content: Ballavenuto JMA, Oliveira JDD, Alves RJ; Acquisition of data: Ballavenuto JMA, Oliveira JDD. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding There were no external funding sources for this study. Study Association This study is not associatedwith any thesis or dissertationwork. Ethics approval and consent to participate This study was approved by the Ethics Committee of the Santa Casa de Misericórdia de São Paulo under the protocol number 12293019.0.0000.5479. All the procedures in this study were in accordance with the 1975 Helsinki Declaration, updated in 2013. Informed consent was obtained from all participants included in the study. 26