Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family.
Arylsulfatase A (ASA) activity in urine and serum was assayed on two 21-month-old monozygotic twins with presumed metachromatic leukodystrophy (MLD), their parents, and kin. The patients showed a marked reduction in ASA activity in both urine and serum. The twins' parents and 11 kin, a total of 13 persons, were examined for ASA activity in serum, but it was not possible to delineate heterozygous carriers of MLD by the present study. The assay of ASA activity in serum promises to be useful for diagnosis of MLD.
D002553:Cerebroside-Sulfatase / Q000097:blood* / Q000652:urine; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D013429:Sulfatases / Q000097:blood*; D014430:Twins, Monozygotic
D013429:Sulfatases; D002553:Cerebroside-Sulfatase