Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.
D000367:Age Factors; D001192:Arylsulfatases / Q000172:deficiency*; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D001192:Arylsulfatases; D002553:Cerebroside-Sulfatase