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Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum
T Kanzaki1, M Yokota, N Mizuno
1Department of Dermatology, Nagoya City University Medical School, Japan.
Lancet (London, England)
|April 22, 1989
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.