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Arylsulphatase C activity in leukocytes of patients and carriers of X‐linked ichthyosis
Author(s) -
Herrmann F. H.,
Grimm U.,
Hadlich J.
Publication year - 1987
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/bf01799494
Subject(s) - ichthyosis , human genetics , medicine , congenital ichthyosis , dermatology , genetics , biology , gene
In Triton X‐100 solubilized leukocytes of 17 patients and 8 obligate carriers of X‐linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to β‐galactosidase activity. The ASC/β‐gal ratio of XLI patients is markedly decreased (range 0.07–0.48) in comparison to the corresponding control group of males (range 1.3–2.7). The enzyme ratios of 8 obligate carriers of XLI are decreased (range 0.90–1.9) in comparison to the normal females (2.13–5.52). These results indicate that the determination of the enzyme ratio of ASC/β‐gal in Triton X‐100 solubilized leukocytes is a sensitive test for biochemical identification of patients and probably of carriers of XLI.