A CASE OF GLYCOGEN STORAGE DISEASE TYPE 1a MIMICKING FAMILIAL CHYLOMICRONEMIA SYNDROME
Olgac A1,*, Okur İ2, Biberoğlu G2, Ezgü FS2, Tümer L2
*Corresponding Author: Dr. Asburce Olgac, Department of Pediatric Metabolism, University of Health Sciences, Dr. Sami Ulus Maternity and Child Health, Training and Research Hospital, Ankara, Turkey. Tel.: +90-312-305-600. Fax: +90-312-317-03-53. E-mail: mabolgac@yahoo.com
page: 103

REFERENCES

1. Chou JY, Kim GY, Cho JH. Recent development and gene therapy for glycogen storage disease type Ia. Liver Res. 2017;1(3): 174-180. 2. Shah MH, Roshan R, Desai R, Kadam SS. Neonatal hyperlipidemia with pancreatitis: novel gene mutation of lipoprotein lipase. J Postgrad Med. 2018; 64(4): 247-249. 3. Gao M, Yang C, Wang X, et al. ApoC2 deficiency elicits severe hypertriglyceridemia and spontaneous atherosclerosis: A rodent model rescued from neonatal death. Metabolism. 2020; 109: 154296. 4. Siafakas CG, Brown MR, Miller TL. Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. J Pediatr Gastroenterol Nutr. 1999; 29(1): 95-98. 5. Yıldız Y, Uysal Yazıcı M, Çınar HG, Özbay Hoşnut F, Kurt Çolak F, Kılıç M. Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant. Pancreatology. 2020; 20(4): 644-646. 6. Chou JY, Mansfield BC. Mutations in the glucose- 6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat. 2008; 29(7): 921-930. 7. Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, Chen YT, Crigler JF Jr, Ferreira P, Haworth JC, Herman GE, Issenman RM, Keating JP, Linde R, Roe TF, Senior B, Wolfsdorf JI: Glycogen storage disease in adults. Ann Intern Med. 1994; 120(4): 218-226. 8. Bandsma RH, Prinsen BH, van Der Velden Mde S, Rake JP, Boer T, Smit GP, Reijngoud DJ, Kuipers F: Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res. 2008; 63(6): 702-707. 9. Carvalho PMS, Silva NJM, Dias PGD, Porto JFC, Santos LC, Costa JMN. Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. J Diabetes Metab Disord. 2013; 12(1): 25. 10. Koeberl DD, Kishnani PS, Bali D, Chen Y-T. Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab. 2009; 20(5): 252-258.



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