Fabry disease.
Fabry disease results from deficient activity of the enzyme α-galactosidase A and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The main neurological presentations of Fabry disease patients are painful neuropathy, hypohidrosis, and stroke. Fabry neuropathy is characterized as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers. Enzyme replacement therapy (ERT) has been shown to have some positive effects on the reduction of neuropathic pain, the improvement of detection threshold for thermal sensation, and sweat function. On the contrary, the effect of ERT on the central nervous system has not been established. Early initiation of ERT before irreversible organ failure is extremely important, and alternative therapeutic approaches are currently being explored. Heterozygotes suffer from peripheral neuropathy at a higher rate than previously shown, significant multisystemic disease, and severely decreased quality of life. As well as being carriers, heterozygotes also display symptoms of Fabry disease, and should be carefully monitored and given adequate therapy.
Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan. Electronic address: ktoyooka@toneyama.go.jp.
Keiko
K
Toyooka
D000818:Animals; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D010525:Peripheral Nerves / Q000473:pathology / Q000648:ultrastructure; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase
Fabry disease; angiokeratomas; enzyme replacement therapy; lysosomal storage disorder; neuropathic pain; small fiber neuropathy; α-galactosidase A deficiency