Abstract
Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Dreyfus J. C., Poenaru L., Svennerholm L. Absence of hexosaminidase A and B in a normal adult. N Engl J Med. 1975 Jan 9;292(2):61–63. doi: 10.1056/NEJM197501092920201. [DOI] [PubMed] [Google Scholar]
- Dubois G., Turpin J. C., Baumann N. Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay. Biomedicine. 1975 Apr 10;23(3):116–119. [PubMed] [Google Scholar]
- Dubois G., Turpin J. C., Baumann N. Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy. N Engl J Med. 1975 Aug 7;293(6):302–302. doi: 10.1056/nejm197508072930613. [DOI] [PubMed] [Google Scholar]
- Dubois G., Turpin J. C., Baumann N. Utilisation de l'électrophorèse pour la détection de la leukodystrophie métachromatique à partir de leucocytes humains. C R Acad Sci Hebd Seances Acad Sci D. 1974 Mar 4;278(10):1401–1403. [PubMed] [Google Scholar]
- Jatzkewitz H., Mehl E. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML). J Neurochem. 1969 Jan;16(1):19–28. doi: 10.1111/j.1471-4159.1969.tb10339.x. [DOI] [PubMed] [Google Scholar]
- Navon R., Padeh B., Adam A. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease. Am J Hum Genet. 1973 May;25(3):287–293. [PMC free article] [PubMed] [Google Scholar]
- Percy A. K., Brady R. O. Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science. 1968 Aug 9;161(3841):594–595. doi: 10.1126/science.161.3841.594. [DOI] [PubMed] [Google Scholar]
- Vidgoff J., Buist N. R., O'Brien J. S. Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman. Am J Hum Genet. 1973 Jul;25(4):372–381. [PMC free article] [PubMed] [Google Scholar]