伴有弥漫性躯体血管角皮瘤的新型溶酶体糖氨基酸贮积病。
Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum.
作者信息
Kanzaki T, Yokota M, Mizuno N, Matsumoto Y, Hirabayashi Y
机构信息
Department of Dermatology, Nagoya City University Medical School, Japan.
出版信息
Lancet. 1989 Apr 22;1(8643):875-7. doi: 10.1016/s0140-6736(89)92867-5.
PMID:2564952
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.
摘要
一名46岁的日本女性患有播散性血管角质瘤，经电子显微镜检查确诊，结果显示肾脏和皮肤细胞中有大量细胞质空泡。白细胞和成纤维细胞中针对合成底物和天然底物的酶活性正常。她的尿液中含有大量唾液酸糖氨基酸，其中以O-糖苷键连接的糖氨基酸排泄为主。
Zotero 插件