Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.
Arylsulfatase A and B activities were assayed in leucocytes of 43 controls, 11 cases of Metachromatic Leucodystrophy and 7 parents or siblings of patients, using a new technique implying specific inhibitors for leucocyte enzymes. Heterozygotes can be determined, with a 50% value compared to the control, in variant B. Electrophoresis of leucocytes after enzymatic staining for arylsulfatase, is a complementary technique which allowed the detection of a new form of metachromatic leucodystrophy.
D000328:Adult; D001192:Arylsulfatases / Q000378:metabolism*; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002648:Child; D002803:Chondro-4-Sulfatase / Q000378:metabolism; D004796:Clinical Enzyme Tests / Q000379:methods; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism*; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics; D013429:Sulfatases / Q000378:metabolism*
D007527:Isoenzymes; D013429:Sulfatases; D001192:Arylsulfatases; D002553:Cerebroside-Sulfatase; D002803:Chondro-4-Sulfatase