Abstract
The X-linked recessively inherited disorder, Menkes' disease, is characterised by progressive cerebral degeneration and connective tissue abnormalities. Although the basic defect remains unknown, it appears to render copper unavailable to copper-dependent enzymes. The connective tissue defects are thus explicable on the basis of reduced activity of lysyl oxidase, which initiates the crosslinking of collagen and elastin. Since tissue levels of this enzyme have not previously been determined in Menkes' disease, we have measured its activity in extracts of skin and aorta from a patient who died at 11 months of age with unusually marked connective tissue involvement, i.e. osteoporosis, Wormian bones, pathological fractures, cutis laxa, bladder diverticula and tortuosity of arteries. We found it, indeed, to be only 10-15% of that in extracts from age-matched controls. Despite this, the ratio of β to α components of pepsin-extracted type I collagen from these two tissues appeared to be normal, and it may be that low levels of lysyl oxidase affect the crosslinking of elastin to a greater extent than that of collagen.
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Royce, P., Steinmann, B. TISSUE LYSYL OXIDASE ACTIVITY IS DECREASED IN MENKES' DISEASE. Pediatr Res 22, 237 (1987). https://doi.org/10.1203/00006450-198708000-00143
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DOI: https://doi.org/10.1203/00006450-198708000-00143