Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum.
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.
Kanzaki
T
T
Department of Dermatology, Nagoya City University Medical School, Japan.
Yokota
M
M
Mizuno
N
N
Matsumoto
Y
Y
Hirabayashi
Y
Y
D000596:Amino Acids / Q000652:urine; D001706:Biopsy; D055598:Chemical Phenomena; D002621:Chemistry; D000795:Fabry Disease / Q000648:ultrastructure / Q000652:urine*; D005260:Female; D006001:Glycoconjugates / Q000652:urine*; D006008:Glycogen Storage Disease / Q000473:pathology / Q000652:urine*; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure; D008854:Microscopy, Electron; D008875:Middle Aged; D012794:Sialic Acids / Q000652:urine; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
D000596:Amino Acids; D006001:Glycoconjugates; D012794:Sialic Acids