Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.
OBJECTIVE
Use of sulfatide excretion in differentiating MLD/PD-heterozygotes from MLD-patients and PD/PD-homozygotes.


METHODS
Sulfatide was extracted from urine sediment with chlorotom/methanol (2:1, v/v). The quantity of sulfatide was measured densitometrically (lambda = 580 nm) after thin-layer chromatography. ASA and beta-galactosidase activities were assayed enzymatically.


RESULTS
MLD/PD-heterozygotes excreted sulfatide in the range of 4.8-36.3 nmol/mg lipid (mean +/- SD = 17.8 +/- 10.7), whereas sulfatide in MLD-patients ranged from 74.3-411.6 nmol/mg lipid (mean +/- SD = 184.5 +/- 130.8) and in PD/PD-hormozygotes sulfatide excretion remained in normal range of 0.0-5.9 nmol/mg lipid (mean +/- SD = 1.64 +/- 2.12). ASA activities in these groups were very low or lowered.


CONCLUSIONS
The quantitative measurement of sulfatide in urine allows differentiation between MLD/PD-heterozygotes and MLD-heterozygotes, as well as between MLD/PD-heterozygotes with very low ASA activity and MLD-patients or PD/PD-hormozygotes. The quantitative measurement of sulfatide in urine differs between MLD-carriers and controls.
Lugowska
A
A
Children's Memorial Health Institute, Department of Metabolic Diseases, Warsaw, Poland.
Tylki-Szymańska
A
A
Berger
J
J
Molzer
B
B
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D013433:Sulfoglycosphingolipids / Q000652:urine*
D013433:Sulfoglycosphingolipids; D002553:Cerebroside-Sulfatase