Metachromatic leukodystrophy: diagnosis with samples of venous blood.
Arylsulfatase A and B have been demonstrated in preparations of human leukocytes. The level of activity of arylsulfatase A is markedly decreased in the preparations from patients with metachromatic leukodystrophy. Acid phosphatase and arylsulfatase B activities were normal. The assay of arylsulfatase A in leukocyte preparations can be useful in the diagnosis of metachromatic leukodystrophy while obviating the difficulties of current methods.
D000135:Acid Phosphatase / Q000097:blood; D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000201:enzymology; D002396:Catechols / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D008064:Lipidoses / Q000201:enzymology; D008297:Male; D009136:Muscular Dystrophies / Q000201:enzymology; D013429:Sulfatases / Q000097:blood*; D014680:Veins
D002396:Catechols; D000135:Acid Phosphatase; D013429:Sulfatases