INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED BLOOD CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS

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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 μg⁄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 μg⁄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 μg⁄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.