Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report

발달의 퇴행을 보여 진단된 제2형 GM1 gangliosidosis 1례

  • Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Cho, Tae Joon (Department of Orthopedic Surgery, Seoul National University College of Medicine) ;
  • Chae, Jong-Hee (Department of Pediatrics, Seoul National University College of Medicine)
  • 고정민 (서울대학교 의과대학 소아과학교실) ;
  • 조태준 (서울대학교 의과대학 정형외과학교실) ;
  • 채종희 (서울대학교 의과대학 소아과학교실)
  • Published : 2014.12.25
Download PDF
⟨ Previous Next ⟩

Abstract

GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

Keywords

References

  1. Okada S, O'Brien JS. Generalized gangliosidosis: beta-galactosidase deficiency. Science 1968;160:1002-4. https://doi.org/10.1126/science.160.3831.1002
  2. Suzuki Y, Nanba E. $\beta$-Galactosidase deficiency ($\beta$-galactosidosis) GM1-gangliosidosis and Morquio B disease, The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, New York, 2001.
  3. Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, et al. Human betagalactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet 1991;49:435-42.
  4. Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am J Hum Genet 1991;49:566-74.
  5. Suzuki Y, Nanba E, Matsuda J, Higaki K, Oshima A. $\beta$-galactosidase deficiency ($\beta$-Galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID), McGraw-Hill, New York, 2014.
  6. Sinigerska I, Chandler D, Vaghjiani V, Hassanova I, Gooding R, Morrone A, et al. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population, Mol Genet Metab 2006;88:93-5. https://doi.org/10.1016/j.ymgme.2005.12.009
  7. Celtikci B, Aydin HI, Sivri S, Sonmez M, Topcu M, Ozkara HA. Four novel mutations in the $\beta$-galactosidase gene identified in infantile type of GM1 gangliosidosis. Clin Biochem 2012;45:571-4. https://doi.org/10.1016/j.clinbiochem.2011.12.019
  8. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 2008;94:391-6. https://doi.org/10.1016/j.ymgme.2008.04.012
  9. Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, et al. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat 2009;30:1214-21. https://doi.org/10.1002/humu.21031
  10. Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, et al. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet 2010;78:236-46. https://doi.org/10.1111/j.1399-0004.2010.01379.x
  11. Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, et al. Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency. Dev Neurosci. 1991;13:299-303. https://doi.org/10.1159/000112201
  12. Shield JP, Stone J, Steward CG. Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis. J Inherit Metab Dis 2005;28:797-8. https://doi.org/10.1007/s10545-005-0089-7