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Case Reports
. 1989 Apr 22;1(8643):875-7.
doi: 10.1016/s0140-6736(89)92867-5.

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

T Kanzaki  1 , M Yokota, N Mizuno, Y Matsumoto, Y Hirabayashi
Affiliations
Case Reports

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

T Kanzaki et al. Lancet. .

Abstract

A 46-year-old Japanese woman had disseminated angiokeratoma, confirmed by electron microscopy which showed numerous cytoplasmic vacuoles in cells of the kidney and skin. Enzyme activities against synthetic and natural substrates in leucocytes and fibroblasts were normal. Her urine contained a large amount of sialylglycoaminoacids, with predominant excretion of an O-glycoside-linked glycoaminoacid.

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