Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.
Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of the polyanionic glycosaminoglycans (mucopolysaccharides); histochemical staining with the cationic dyes toluidine blue O and Alcian blue detects such intracellular accumulation. With these stains as phenotypic markers, correction of the cellular abnormality by fibroblasts derived from different patients and their heterozygous parents has been observed among several genetic types of mucopolysaccharidoses. In this way, syndromes previously considered clinically homogeneous have been separated into distinct groups.
D000417:Albinism / Q000150:complications; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002460:Cell Line; D004396:Coloring Agents; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000378:metabolism*; D006402:Hematologic Diseases / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006651:Histocytochemistry; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism; D007962:Leukocytes; D008027:Light; D008214:Lymphocytes; D009083:Mucopolysaccharidoses / Q000235:genetics / Q000378:metabolism*; D009085:Mucopolysaccharidosis IV / Q000378:metabolism; D010640:Phenothiazines; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism*; D013194:Staining and Labeling
D004396:Coloring Agents; D006025:Glycosaminoglycans; D010640:Phenothiazines