X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein.
Plasma cholesterol sulfate concentration is increased in patients with recessive X-linked ichthyosis, a disease in which steroid sulfatase activity is absent. In these patients, cholesterol sulfate is found primarily in the low-density lipoprotein fraction of plasma, and the electrophoretic mobility of these lipoproteins is greatly increased.
D002788:Cholesterol Esters / Q000097:blood*; D004587:Electrophoresis, Agar Gel; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000097:blood / Q000235:genetics*; D008077:Lipoproteins, LDL / Q000097:blood*; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency; D013431:Sulfates; D014960:X Chromosome
D002788:Cholesterol Esters; D008077:Lipoproteins, LDL; D013431:Sulfates; D013429:Sulfatases; D043266:Steryl-Sulfatase