A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene

Dermatology. 2000;200(3):262-5. doi: 10.1159/000018372.

Abstract

We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Fabry Disease / enzymology
  • Fabry Disease / genetics
  • Fabry Disease / pathology*
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Skin Diseases / enzymology
  • Skin Diseases / genetics
  • Skin Diseases / pathology*
  • alpha-Galactosidase / genetics*
  • alpha-Galactosidase / metabolism

Substances

  • alpha-Galactosidase