Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

A case of glycogen storage disease type Ib

당원병 1b 형 1례

  • Kim, Moon-Sun (Department of Pediatrics Catholic University of Daegu School of Medicine) ;
  • Park, Jae-Bok (Department of Pathology, Catholic University of Daegu School of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Kim, Jin-Kyung (Department of Pediatrics Catholic University of Daegu School of Medicine)
  • 김문선 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 박재복 (대구가톨릭대학교 의과대학 병리학교실) ;
  • 기창석 (성균관대학교 의과대학 삼성서울병원 진단검사의학교실) ;
  • 김진경 (대구가톨릭대학교 의과대학 소아과학교실)
  • Received : 2009.07.29
  • Accepted : 2009.11.05
  • Published : 2009.12.15
Download PDF
⟨ Previous Next ⟩

Abstract

We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).

저자들은 생후 18개월 여아에서 당원병 Ib 형을 경험하였기에 보고하는 바이다. 진단 시에는 호중구 감소증이 없었고, 이후 점차 중성구가 감소하여 3세에 절대적 호중구수가 $500/{\mu}L$ 미만을 보였다. 반복적인 세균 감염은 없었다. 유전자(SLC37A4) 검사에서 복합 이형접합체 과오돌연변이(Ala148Val/Gly273Asp)를 확인할 수 있었다.

Keywords

References

  1. Chen YT. Glycogen storage disease. In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle, Editors. The Metabolic and Molecular Bases of Inherited Disease 8th ed. McGraw Hill, New York, 2001:1521-51
  2. Chou JY, Matern D, Mansfield BC, Chen YT. Type I glycogen storage disease: disorders of the glucose-6-phosphatase com plex. Curr Mol Med 2002;2:121-43 https://doi.org/10.2174/1566524024605798
  3. Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose- 6-phosphatase catalytic subunit-related protein. J Mol Endocrinol 2002;29:205-22 https://doi.org/10.1677/jme.0.0290205
  4. Cheung YY, Kim SY, Yiu WH, Pan CJ, Jun HS, Ruef RA, et al. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase- beta. J Clin Invest 2007;117:784-93 https://doi.org/10.1172/JCI30443
  5. Lin B, Annabi B, Hiraiwa H, Pan CJ, Chou JY. Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents. J Biol Chem 1998; 273:31656-60 https://doi.org/10.1074/jbc.273.48.31656
  6. Kim SY, Jun HS, Mead PA, Mansfield BC, Chou JY. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood 2008;111:5704-11 https://doi.org/10.1182/blood-2007-12-129114
  7. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 2000;137:187-91 https://doi.org/10.1067/mpd.2000.105232
  8. Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L. Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur J Pediatr 2002;161 Suppl 1: S88-92 https://doi.org/10.1007/s00431-002-1011-z
  9. Visser G, Rake JP, Kokke FT, Nikkels PG, Sauer PJ, Smit GP. Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 2002;25:261-7 https://doi.org/10.1023/A:1016572706488
  10. Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, et al. Glycogen storage disease type Ib without neutropenia. J Pediatr 2000;137:253-6 https://doi.org/10.1067/mpd.2000.107472
  11. Angaroni CJ, Labrune P, Petit F, Sastre D, Capra AE, Dodelson de Kremer R, et al. Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene. Mol Genet Metab 2006;88:96-9 https://doi.org/10.1016/j.ymgme.2005.12.011
  12. Martens DH, Kuijpers TW, Maianski NA, Rake JP, Smit GP, Visser G. A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction. J Inherit Metab Dis 2006;29:224-5 https://doi.org/10.1007/s10545-006-0146-x
  13. Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. European Study on Glycogen Storage Disease Type I Consensus guidelines for management of glycogen storage disease type Ib -European Study on Glycogen Storage Disease Type I. Eur J Pediatr 2002;161 Suppl 1:S120-3 https://doi.org/10.1007/s00431-002-1017-6
  14. Leuzzi R, Bánhegyi G, Kardon T, Marcolongo P, Capecchi PL, Burger HJ, et al. Inhibition of microsomal glucose-6- phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood 2003;101:2381-7 https://doi.org/10.1182/blood-2002-08-2576
  15. Trioche P, Petit F, Francoual J, Gajdos V, Capel L, Poüs C, et al. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. J Inherit Metab Dis 2004;27:621-3 https://doi.org/10.1023/B:BOLI.0000042987.43395.c6
  16. Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 2002;161 Suppl 1:S10-9 https://doi.org/10.1007/s00431-002-0998-5
  17. Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, et al. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Biochem Biophys Res Commun 1998;248:426-31 https://doi.org/10.1006/bbrc.1998.8985
  18. Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, et al. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet 1999;7:717-23 https://doi.org/10.1038/sj.ejhg.5200366
  19. Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, et al. A novel mutation (Ala148Val) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. J Kor Med Sci 2005;20:499-501 https://doi.org/10.3346/jkms.2005.20.3.499
  20. Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, et al. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res 2000;48:329-34 https://doi.org/10.1203/00006450-200009000-00011

Cited by

  1. Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib vol.37, pp.3, 2009, https://doi.org/10.3343/alm.2017.37.3.261