X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers |
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Authors: | M Piraud I Maire M T Zabot |
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Affiliation: | Unité d'Enzymologie, Service de Biochimie, H?pital Debrousse, Lyon, France. |
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Abstract: | Steroid sulfatase deficiency (SSD) is a sex-linked disorder characterized clinically by generalized X-linked ichthyosis. We report a study of 10 families where the clinical diagnosis of this disorder was confirmed by measuring arylsulfatase C and steroid sulfatase (STS) in cultured skin fibroblasts and/or leukocytes of patients and heterozygotes. The optimal conditions for these enzymatic determinations were determined. Our data indicate that STS measurement is a reliable test for SSD diagnosis, either in fibroblasts or in leukocytes. For the detection of heterozygotes, several enzymatic determinations in different cell types are required. |
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