New GAA mutations in Japanese patients with GSDII (Pompe disease)

Pediatr Neurol. 2003 Oct;29(4):284-7. doi: 10.1016/s0887-8994(03)00267-4.


Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. The GAA gene, responsible for this disease, has been mapped to chromosome 17q25.2-25.3. To date, more than 70 disease-causing mutations have been identified. In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H). The pathogenicity of these new mutations was verified by the loss of function of the mutant enzymes expressed in COS cells.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics*
  • Child, Preschool
  • Exons / genetics
  • Female
  • Glycogen Storage Disease Type II / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics
  • alpha-Glucosidases / genetics*


  • alpha-Glucosidases