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A fluorimetric assay of steroid sulphatase in leukocytes: Evidence for two genetically different enzymes with arylsulphatase C activity
Author(s) -
Diggelen O. P.,
Konstantinidou A. E.,
Bousema M. T.,
Boer M.,
Bakx Th.,
Jöbsis A. C.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799217
Subject(s) - steroid sulfatase , endocrinology , medicine , steroid , dehydroepiandrosterone , enzyme , enzyme assay , arylsulfatase , chemistry , heterozygote advantage , ichthyosis , biology , microbiology and biotechnology , biochemistry , hormone , genetics , genotype , androgen , gene
Summary Arylsulphatase C (ASC) activity in leukocytes and fibroblasts measured with 4‐methylumbelliferylsulphate, is caused by at least two genetically different sulphatases. One of these is steroid sulphatase (STS). Depending on the substrate concentration, about 10–50% of the ASC activity in leukocytes can be attributed to sulphatases other than STS. Steroid sulphatase can be measured specifically with 4‐methylumbelliferylsulphate as the fraction of total ASC activity which is inhibitable by dehydroepiandrosterone sulphate. Using this assay, the adjusted ASC activity in leukocytes from patients with X‐linked ichthyosis was 2% of normal. Obligate heterozygotes showed reduced activity.