Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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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)
  • Received : 2014.08.21
  • Accepted : 2014.10.12
  • Published : 2014.12.30
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Abstract

Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center. Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated. Results: Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was $77{\pm}62.0$ months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%. Conclusion: Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.

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References

  1. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10. https://doi.org/10.1542/peds.105.1.e10
  2. Ozen H. Glycogen storage diseases: new perspectives. World J Gastroenterol 2007;13:2541-53. https://doi.org/10.3748/wjg.v13.i18.2541
  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. https://doi.org/10.1186/1750-1172-6-27
  5. Wolfsdorf JI, Weinstein DA. Glycogen storage diseases. Rev Endocr Metab Disord 2003;4:95-102. https://doi.org/10.1023/A:1021831621210
  6. Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 1984;310:171-5. https://doi.org/10.1056/NEJM198401193100306
  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. https://doi.org/10.1007/PL00014320
  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. https://doi.org/10.1002/lt.21151
  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. https://doi.org/10.1007/BF02106291
  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. https://doi.org/10.1007/BF01799498
  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. https://doi.org/10.1007/BF02679990
  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. https://doi.org/10.1038/jhg.2013.17
  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. https://doi.org/10.1016/j.jhep.2006.09.022
  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. https://doi.org/10.3109/01913123.2011.601404
  22. 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. https://doi.org/10.1007/BF01800225
  23. 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. https://doi.org/10.7326/0003-4819-120-3-199402010-00008
  24. 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. https://doi.org/10.1002/ajmg.a.30945
  25. 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. https://doi.org/10.2174/1566524024605815
  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. https://doi.org/10.1111/j.1442-200x.2005.02131.x
  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. https://doi.org/10.1073/pnas.89.6.2096
  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. https://doi.org/10.1093/hmg/7.1.149
  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. https://doi.org/10.1016/j.ymgme.2007.06.007

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