Fabry's disease: report of a case
Chang, H.S.; Ro, L.S.; Chen, S.T.; Tang, L.M.; Hsiao, K.J.
Journal of the Formosan Medical Association 94(6): 346-350
1995
ISSN/ISBN: 0929-6646 PMID: 7549555 Document Number: 441695
Fabry's disease is a rare hereditary disorder of glycosphingolipid metabolism. Its clinical features have not been adequately described in Taiwan. This paper reports on a 32-year-old man who had painful acroparesthesia, disseminated skin angiokeratomas, whorled corneal opacity, mitral valve prolapse and renal insufficiency. There was also involvement of the central motor pathways and the autonomic nervous system. A sural nerve biopsy showed loss of small myelinated and unmyelinated fibers. A reduced serum activity of alpha-galactosidase A and a large amount of urinary globotriaosylceramide confirmed the diagnosis of Fabry's disease.