[Ichthyosis and steroid sulfatase: study of enzymatic activity in leukocytes and fibroblasts according to the sex and type of ichthyosis].
Steroidsulfatase and arylsulfatase C were determined in fibroblasts and/or leukocytes of patients affected with different types of ichthyosis. Of the 21 patients studied, 11 showed clinical characteristics of X-linked ichthyosis (XLI) and a deficiency of these 2 enzymatic activities. Patients affected with other types of ichthyosis showed no enzymatic deficiency. In XLI families diagnosis of heterozygotes was performed by enzymatic measurements in the 5 patients' mothers studied. In 2 families enzymatic activities were studied in patients' sisters. The validity of these different enzymatic measurements is discussed.
Piraud
M
M
Laboratoire d'enzymologie, Hôpital Debrousse, Lyon, France.
Cambazard
F
F
Barrut
D
D
D000293:Adolescent; D000328:Adult; D001192:Arylsulfatases / Q000172:deficiency / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D012737:Sex Factors; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism*
D013429:Sulfatases; D001192:Arylsulfatases; D043266:Steryl-Sulfatase
Ichtyoses et stéroïde sulfatase: étude de l'activité enzymatique dans les leucocytes et les fibroblastes selon le sexe et le type d'ichtyose.