Eur Rev Med Pharmacol Sci 2004; 8 (6): 275-281

Fabry disease with special reference to neurological manifestations

T.K. Banerjee

Deptartment of Neurology, National Neurosciences Center Calcutta, Peerless Hospital Campus, Garia, Kolkata (India)

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.

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To cite this article

T.K. Banerjee
Fabry disease with special reference to neurological manifestations

Eur Rev Med Pharmacol Sci
Year: 2004
Vol. 8 - N. 6
Pages: 275-281

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