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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.

pediatric research

Markedly Reduced Activity of Lysyl Oxidase in Skin and Aorta from a Patient with Menkes' Disease Showing Unusually Severe Connective Tissue Manifestations