Hearing loss in a family affected by Fabry disease

J Inherit Metab Dis. 2007 Jun;30(3):370-4. doi: 10.1007/s10545-007-0523-0. Epub 2007 May 9.

Abstract

Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues. Otological manifestations consist of hearing loss and mild vestibular disorders. In this report we describe a family of five members affected by Fabry disease with four subjects showing inner ear involvement.

MeSH terms

  • Adolescent
  • Adult
  • Disease Progression
  • Fabry Disease / genetics*
  • Fabry Disease / physiopathology*
  • Female
  • Hearing Loss / genetics*
  • Hearing Loss / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Reference Values
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase