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.