Fabry's Disease
Haruka KATO, Kenichi SATO, Susumu HATTORI, Suguru IKEMOTO, Mitsuyuki SHIMIZU, Yukihide ISOGAI
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1992 Volume 31 Issue 5 Pages 682-685
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1992 Volume 31 Issue 5 Pages 682-685
A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease.
(Internal Medicine 31 : 682-685, 1992)
