Abstract
Multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) are both characterized by a deficiency of arylsulphatase A (ARS A) activity, although they are inherited as separate autosomal recessive traits. However, it has been found that the immunologically active substance with anti-ARS A antibody is present in quite normal levels in MLD and in smaller quantities in MSD fibroblasts (Fiddler, 1979).
Indirect immunofluorescence staining with anti-ARS A antibody displayed a coarse granular and diffuse distribution of ARS A or cross-reacting material (CRM) in the normal control and MLD fibroblasts, whereas very weak fluorescence staining was observed in MSD fibroblasts proportional to the decrease in the ARS A activity observed in the lysate enzyme assay.
These results suggest that ARS A deficiency in MLD cells is due to an enzymatically deficient ARS A molecule, which is immunologically cross-reactive with anti-normal ARS A antibody. ARS A deficiency in MSD cells appears to be due to a reduced amount of normal ARS A.
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Tanaka, A., Higami, S., Isshiki, G. et al. Immunofluorescence staining and immunological studies of arylsulphatase a of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts. J Inherit Metab Dis 6, 21–26 (1983). https://doi.org/10.1007/BF02391188
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DOI: https://doi.org/10.1007/BF02391188