Abstract:
:Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and beta-N-acetylglucosaminidase-were comparable to those in control cells. The presence of dissociable inhibitors in extracts of the diseased cells was excluded by combination experiments. The deficiency of the enzyme in leukocytes was also confirmed and is comparable to that found in cultured fibroblasts. The finding that readily cultured fibroblasts from easily obtained skin biopsy specimens exhibit the enzymatic defect should prove valuable in the biochemical study of this disease.
journal_name
Proc Natl Acad Sci U S Aauthors
Porter MT,Fluharty AL,Kihara Hdoi
10.1073/pnas.62.3.887subject
Has Abstractpub_date
1969-03-01 00:00:00pages
887-91issue
3eissn
0027-8424issn
1091-6490journal_volume
62pub_type
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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更新日期:2008-12-02 00:00:00
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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