Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study |
Jeong, Yu Ju
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kang, Ben (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Choi, So Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Soo-Youn (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Choe, Yon Ho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) |
1 | Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10. DOI ScienceOn |
2 | Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol 2007;13:2541-53. DOI |
3 | Chen YT. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Vale D, Childs B, Kinzler KW, et al., eds. The metabolic & molecular basis of inherited diseases. 8th ed. New York: McGraw-Hill, 2001:1521-52. |
4 | 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. DOI |
5 | Wolfsdorf JI, Weinstein DA. Glycogen storage diseases. Rev Endocr Metab Disord 2003;4:95-102. DOI ScienceOn |
6 | Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 1984;310:171-5. DOI ScienceOn |
7 | Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP; 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 1):S112-9. |
8 | Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, et al. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 1999;158(Suppl 2):S43-8. DOI |
9 | Iyer SG, Chen CL, Wang CC, Wang SH, Concejero AM, Liu YW, et al. Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl 2007;13:848-52. DOI ScienceOn |
10 | Willems PJ, Gerver WJ, Berger R, Fernandes J. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 1990;149:268-71. DOI |
11 | Smit GP, Fernandes J, Leonard JV, Matthews EE, Moses SW, Odievre M, et al. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis 1990;13:411-8. DOI |
12 | Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002;161(Suppl 1):S20-34. DOI |
13 | Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, et al. Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. J Hum Genet 2013;58:285-92. DOI ScienceOn |
14 | Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, et al. Glycogen storage disease type III in Israel: presentation and long-term outcome. Pediatr Endocrinol Rev 2014;11:318-23. |
15 | Lee SY, Seo JK. Uncooked cornstarch therapy in type I glycogen-storage disease (GSD-I). J Korean Pediatr Soc 1995;38:36-46. |
16 | Kim JW, Park JY, Seo JK. Mutation analysis of Korean patients with glycogen storage disease type Ia. Korean J Pediatr Gastroenterol Nutr 2001;4:213-7. |
17 | Yang HR, Seo JK. Long-term outcome of glycogen storage disease type 1; analysis of risk factors for hepatic adenoma. Korean J Pediatr Gastroenterol Nutr 2003;6:129-39. |
18 | Choi J, Ko JM, Kim GH, Yoo HW. Clinical manifestation and effect of corn starch on height growth in Korean patients with glycogen storage disease type Ia. J Korean Soc Pediatr Endocrinol 2007;12:35-40. |
19 | Ko JM, Kim GH, Yoo HW. AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III. J Genet Med 2007;4:72-9. |
20 | Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, et al. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 2007;46:492-8. DOI ScienceOn |
21 | Hicks J, Wartchow E, Mierau G. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol 2011;35:183-96. DOI ScienceOn |
22 | Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002;2:177-88. DOI ScienceOn |
23 | Coleman RA, Winter HS, Wolf B, Chen YT. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 1992;15:869-81. DOI |
24 | Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, et al. Glycogen storage disease in adults. Ann Intern Med 1994;120:218-26. DOI ScienceOn |
25 | L'hermine-Coulomb A, Beuzen F, Bouvier R, Rolland MO, Froissart R, Menez F, et al. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A 2005;139A:118-22. DOI ScienceOn |
26 | Hidaka F, Sawada H, Matsuyama M, Nunoi H. A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1. Pediatr Int 2005;47:687-90. DOI ScienceOn |
27 | Davidson JJ, Ozcelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Proc Natl Acad Sci U S A 1992;89:2096-100. DOI ScienceOn |
28 | Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet 1998;7:149-54. DOI ScienceOn |
29 | Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, et al. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab 2007;92:88-99. DOI ScienceOn |