Menkes’ syndrome therapy

As oral copper is poorly absorbed by infants affected with Menkes syndrome, parenteral copper administration has been used as a therapeutic measure, but the results have been disappointing (Banks, 1975). Copper therapy restores ceruloplasmin and hepatic copper levels to normal, but the symptoms of the disease usually do not improve. This may be because most of the cases reported to date were at least three months old before they were identified and treatment was begun. At this late stage of development, the tissue damage caused by the malabsorption syndrome may be so extensive that it is irreversible. Alternatively, the mutant gene involved in Menkes syndrome may alter the accessibility of serum copper to tissue cells (Banks, 1975). 

Keen et al.86 have demonstrated the prophylactic value of copper(II) chelated by NTA for Menkes disease by using as a laboratory model the crinkled mutant mouse. As this syndrome does not respond to dietary supplementation with either copper sulphate or copper acetate then therapy with chelated copper would appear to have advantages. 

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