X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.
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.
Piraud
M
M
Unité d'Enzymologie, Service de Biochimie, Hôpital Debrousse, Lyon, France.
Maire
I
I
Zabot
M T
MT
D001192:Arylsulfatases / Q000097:blood / Q000172:deficiency / Q000378:metabolism*; D002478:Cells, Cultured; D004796:Clinical Enzyme Tests; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D012016:Reference Values; D012737:Sex Factors; D012867:Skin / Q000201:enzymology; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism*; D014960:X Chromosome
D013429:Sulfatases; D001192:Arylsulfatases; D043266:Steryl-Sulfatase