Menkes disease: recent advances and new aspects.

Copper is the third most abundant trace element in the body, after iron and zinc, and it is required for the normal function of several important copper enzymes. However, the same element in excess is highly toxic and has detrimental effects. Fine regulation of intracellular copper homeostasis is therefore vitally important and disturbance of this balance is reflected in two hereditary disorders, Menkes disease and Wilson disease. In recent years, remarkable progress has been made in this field following the isolation of the defective gene in Menkes disease (MD), which will be the main focus of this review. Progressive neurodegeneration and connective tissue disturbances are the main manifestations ofX linked recessive Menkes disease and