beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum.
A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while alpha-galactosidase and alpha-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.
D000293:Adolescent; D004727:Endothelium / Q000473:pathology; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology* / Q000473:pathology; D005696:Galactosidases / Q000378:metabolism*; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D007787:Lactose Intolerance / Q000150:complications*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*; D012867:Skin / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure; D001616:beta-Galactosidase / Q000378:metabolism*
D005696:Galactosidases; D009439:Neuraminidase; D001616:beta-Galactosidase