Clinical and genetic study of Japanese patients with type 3 Gaucher disease

Mol Genet Metab. 2009 Aug;97(4):272-7. doi: 10.1016/j.ymgme.2009.05.001. Epub 2009 May 10.


Information on the phenotypic variations seen in patients with type 3 (chronic neuronopathic) Gaucher disease (GD) is still limited compared with type 1 GD. We retrospectively investigated the clinical features of 42 Japanese patients with type 3 GD. The 42 patients classified as type 3 fell into two groups: those diagnosed as having type 3 GD at diagnosis (group A; n = 24) and those thought to have type 1 at diagnosis but who later developed neurological symptoms (group B; n = 18). The genotype of group A patients varied widely; however, L444P/L444P and L444P/F213I genotypes accounted for 83% in group B. All the patients who did not receive enzyme replacement with alglucerase or imiglucerase (4 in group A, 2 in group B) died. Nineteen patients received enzyme replacement in group A; however, 7 of these died despite the therapy. On the other hand, 14 patients received enzyme replacement alone in group B and 13 of them survived. Among the ERT-treated patients who survived, only one of 12 in group A and 12 out of 13 in group B can walk unaided. In conclusion, some Japanese GD patients who are thought to have type 1 at diagnosis develop neurological symptoms during their clinical course, and careful observation is essential for patients with characteristic genotypes. Moreover, enzyme replacement alone might not have a sufficient effect on the early onset neurological symptoms in type 3 patients. A different treatment strategy is needed to improve the prognosis of these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian Continental Ancestry Group / genetics
  • Child
  • Child, Preschool
  • Female
  • Gaucher Disease / drug therapy
  • Gaucher Disease / genetics*
  • Genotype
  • Glucosylceramidase / therapeutic use
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Phenotype
  • Retrospective Studies
  • Treatment Outcome


  • alglucerase
  • Glucosylceramidase
  • imiglucerase