Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.
On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling-Creutzfeldt disease. Futhermore, they suggest that the SCD locus is subject to lyonization.
D000303:Adrenal Cortex Diseases / Q000235:genetics*; D000307:Adrenal Gland Diseases / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D013577:Syndrome; D013997:Time Factors
D002784:Cholesterol