Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilson's disease.
Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase activities. Cytochrome oxidase activity, however, was greatly reduced in some cells and almost normal in others. Cultured fibroblasts from patients with Wilson's disease showed moderately reduced succinate dehydrogenase and cytochrome oxidase activities. Amine oxidase activity was only slightly reduced when compared to that of normal. These results indicated that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilson's disease were distinctly different from each other and from normal fibroblasts.
D006631:Amine Oxidase (Copper-Containing); D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D003576:Electron Transport Complex IV / Q000032:analysis; D005347:Fibroblasts / Q000201:enzymology; D006527:Hepatolenticular Degeneration / Q000201:enzymology*; D006651:Histocytochemistry; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000032:analysis; D013385:Succinate Dehydrogenase / Q000032:analysis
D013385:Succinate Dehydrogenase; D006631:Amine Oxidase (Copper-Containing); D000587:Oxidoreductases Acting on CH-NH Group Donors; D003576:Electron Transport Complex IV