Fabry disease with special reference to neurological manifestations

Eur Rev Med Pharmacol Sci. 2004 Nov-Dec;8(6):275-81.

Abstract

Fabry's disease is an X-linked recessive Lysosomal Storage disease. The underlying metabolic defect is deficiency of lysosomal enzyme ceramidetrihexosidase. The disease has multisystem involvement. Neurological manifestations include small-fiber polyneuropathy manifested as painful distal extremities and anhidrosis. Fabry's disease also presents with both small-vessel and cortical multiple cerebral infarcts. Enzyme-replacement therapy has been found effective but expensive. Gene therapy could evolve as the ultimate therapeutic strategy.

Publication types

  • Review

MeSH terms

  • Animals
  • Fabry Disease / genetics
  • Fabry Disease / physiopathology*
  • Fabry Disease / therapy
  • Genetic Therapy
  • Glucosylceramidase / therapeutic use
  • Humans
  • Isoenzymes / therapeutic use
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / physiopathology*
  • Peripheral Nervous System Diseases / therapy
  • alpha-Galactosidase / therapeutic use

Substances

  • Isoenzymes
  • alpha-Galactosidase
  • Glucosylceramidase