title: Severe orthostatic hypotension in a female carrier of Fabry's disease.
abstract: A 21-year-old woman in a family with a history of Fabry's disease showed orthostatic hypotension and whorl-like corneal opacity typical for Fabry's disease. Biochemical studies revealed that she was a heterozygote of the Fabry gene. A variety of autonomic function tests demonstrated both sympathetic and parasympathetic dysfunction. To our knowledge, the present case is the first report of a heterozygous female carrier of Fabry's disease presenting dysfunction of the autonomic nervous system.
mesh_terms: D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000235:genetics / Q000503:physiopathology; D001794:Blood Pressure; D003318:Corneal Opacity / Q000235:genetics; D000795:Fabry Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005696:Galactosidases / Q000172:deficiency; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007024:Hypotension, Orthostatic / Q000235:genetics* / Q000503:physiopathology; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology
chemical_list: D005696:Galactosidases