Fabry's disease: alpha-galactosidase deficiency.
The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.
D000293:Adolescent; D000328:Adult; D000794:Angiokeratoma / Q000201:enzymology*; D001168:Arthritis / Q000201:enzymology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood*; D002554:Cerebrosides; D002648:Child; D005260:Female; D005470:Fluorometry; D005696:Galactosidases; D006026:Glycoside Hydrolases / Q000097:blood; D006027:Glycosides; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged
D002554:Cerebrosides; D006027:Glycosides; D005696:Galactosidases; D006026:Glycoside Hydrolases