title: Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations.
abstract: In Menkes' disease, a severe disturbance of copper handling appears to render copper unavailable for copper-requiring processes. We have measured the activity of lysyl oxidase, the copper-dependent enzyme that initiates the cross-linking of collagen and elastin, in extracts of skin and aorta obtained at autopsy from a patient with unusually marked connective tissue manifestations, and found it to be only 6-12% of normal, thus suggesting a basis for these alterations.
authors.affiliation: Department of Paediatrics, University of Zürich Children's Hospital, Switzerland.
authors.forename: P M
authors.initials: PM
authors.lastname: Royce
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000172:deficiency*; D001011:Aorta / Q000378:metabolism; D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism; D003238:Connective Tissue / Q000378:metabolism / Q000473:pathology; D003300:Copper / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology; D011393:Procollagen-Proline Dioxygenase / Q000378:metabolism; D008249:Protein-Lysine 6-Oxidase / Q000172:deficiency*; D012867:Skin / Q000378:metabolism
chemical_list: D003300:Copper; D003094:Collagen; D011393:Procollagen-Proline Dioxygenase; D000594:Amino Acid Oxidoreductases; D008249:Protein-Lysine 6-Oxidase