Fabry disease with special reference to neurological manifestations.
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.
Banerjee
T K
TK
Department of Neurology, National Neurosciences Center Calcutta, Peerless Hospital Campus, Garia, Kolkata, India.
D000818:Animals; D000795:Fabry Disease / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; D005962:Glucosylceramidase