Fabry disease with special reference to neurological manifestations
Banerjee, T.K.
European Review for Medical and Pharmacological Sciences 8(6): 275-281
2004
ISSN/ISBN: 1128-3602 PMID: 15745387 Document Number: 570769
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.