Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis |
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| Authors: | A Marinkovic-Ilsen A van den Ende B G Wolthers |
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| Institution: | (1) Department of Neonatology (AM), University of Amsterdam, Academisch Medisch Centrum, Amsterdam, The Netherlandss;(2) Department of Clinical Biochemistry (AE), Slotervaart Ziekenhuis, Amsterdam, The Netherlandss;(3) Central Laboratory for Clinical Chemistry (BGW), University Hospital, Groningen, The Netherlandss |
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| Abstract: | Summary The excretion of sulfated steroids was investigated in the urine and feces of six boys aged 9 months to 7 years and 10 months who had recessive X-linked ichthyosis. Profiles of urinary total steroids as well as sulfated steroids were normal. Cholesterol sulfate excretion in the urine was not elevated. In the feces 2–20% of total cholesterol was cholesterol sulfate, whereas in the feces of 28 healthy children no cholesterol sulfate was demonstrable. In the 6 patients total cholesterol excretion (500–2,500  mol/kg feces) was also elevated in comparison with the 28 healthy controls (150–700 mol/kg feces, mean 365 mol/kg feces) |
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| Keywords: | Recessive X-linked ichthyosis Microsomal sulfatase deficiency Cholesterol sulfate excretion |
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