Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis.
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 mumol/kg feces) was also elevated in comparison with the 28 healthy controls (150-700 mumol/kg feces, mean 365 mumol/kg feces).
D002648:Child; D002675:Child, Preschool; D002788:Cholesterol Esters / Q000378:metabolism* / Q000652:urine; D005243:Feces / Q000032:analysis*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008297:Male; D008861:Microsomes / Q000201:enzymology; D013256:Steroids / Q000652:urine*; D013429:Sulfatases / Q000172:deficiency*; D013463:Sulfuric Acid Esters / Q000652:urine*; D013464:Sulfuric Acids / Q000652:urine*; D014960:X Chromosome
D002788:Cholesterol Esters; D013256:Steroids; D013463:Sulfuric Acid Esters; D013464:Sulfuric Acids; D013429:Sulfatases; C007045:cholesteryl sulfate