Enzymic detection of metachromatic leukodystrophy patients and heterozygotes

Two unrelated families with metachromatic leukodystrophy have been examined for the leukocyte enzyme arylsufatase A. The enzyme activities clearly reflect an autosomal recessive mode of inherence. All four parents showed heterozygote enzyme levels 40-60 percent of the control range while the two affected children had less than 20 percent normal activity. The two sibs of one affected child were shown to be heterozygote carriers. A simple screening method for sulfatase activity in tears has been developed which distinguished between metachromatic leukodystrophy patients and a control population which included other neurological disorders. Enzyme screening on tears may also be used to detect other lysosomal storage diseases including Tay-Sachs and Fabry disease.