A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.
A boy with clinical characteristics of Menkes disease was described. Extremely low serum copper concentration, low ceruloplasmin level and increased copper accumulation in cultured fibroblasts confirmed the diagnosis. Electronmicroscopy of elastic cartilage showed abnormalities of chondrocyte function and a derangement of extracellular substance polymerization.
D001928:Brain Diseases, Metabolic / Q000473:pathology*; D002356:Cartilage / Q000032:analysis / Q000648:ultrastructure*; D002478:Cells, Cultured; D003300:Copper / Q000032:analysis*; D004547:Elastic Tissue / Q000032:analysis / Q000648:ultrastructure*; D005347:Fibroblasts / Q000032:analysis / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000378:metabolism / Q000473:pathology*
D003300:Copper