title: Increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase deficient patients.
abstract: Steroid sulfatase deficiency is an inborn error of metabolism characterized during fetal life by decreased estriol production and postnatally by x-=linked ichthyosis. No consistent substrate abnormalities have been found beyond the perinatal period. Utilizing gas chromatography, we found that the cholesterol sulfate concentration was less than 350 micrograms/100 ml plasma in 9 normal adults, 2 subjects with ichthyosis vulgaris and 2 subjects with lamellar ichthyosis. Control red cell membranes had less than 300 micrograms/100 ml erythrocytes. Eight subjects (age 3 months-74 years) with steroid sulfatase deficiency had strikingly elevated cholesterol sulfate levels with means and ranges as follows: plasma - 3,300 micrograms/100 ml (2,700-4,000), red cell membranes- 7,500 (5,200-9,800) Cholesterol sulfate is known to effect membrane stability and the present observations may help to explain the pathogenesis of STS deficiency and x-linked ichthyosis.
mesh_terms: D000328:Adult; D000368:Aged; D002788:Cholesterol Esters / Q000097:blood*; D004910:Erythrocyte Membrane / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000097:blood / Q000235:genetics; D007223:Infant; D008875:Middle Aged; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
chemical_list: D002788:Cholesterol Esters; D013429:Sulfatases; D043266:Steryl-Sulfatase; C007045:cholesteryl sulfate