Variation of Arylsulphatase A: Comparative Studies of Arylsulphatase A with Synthetic and Natural Substrates in Three Families with Metachromatic Leucodystrophy

Publisher Website
Google Scholar
Abstract
Arylsulfatase A activity was measured in leukocytes and cultured fibroblasts from individuals of 3 families with late infantile and adult metachromatic leukodystrophy, comparing enzyme assays with natural and 2 synthetic substrates including a simple and sensitive test employing 4-methylumbelliferyl sulfate and AgNO3. Enzyme activities were compared with those obtained after isoelectric focusing. Arylsulfatase A values obtained for different heterozygotes were almost continuously scattered over the entire range from patient level to normal level. Arylsulfatase A values of the heterozygotes were at least slightly higher than the activity of diseased persons when measured with 3 different assays. There may be a crucial minimal level of residual arylsulfatase A activity necessary to avoid manifestation of the disease.