Patient Information: Menkes syndrome

Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope.

Menkes' disease is transmitted as an X-linked recessive trait. Sufferers can not transport copper, which is needed by enzymes involved in making bone, nerve and other structures. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations (i.e. mutations in the same gene, but having slightly different symptoms) and it is hoped that research into these diseases may prove useful in fighting Menkes' disease.

If administered within the first few months of life, copper histidinate appears to be effective in increasing the life expectancy of some patients. However, this treatment only increases life expectancy from three to thirteen years of age, so can only be considered a palliative. A similar condition to Menkes' disease exists in mice; working with these model organisms will help give insight into human copper transport mechanisms, so helping to develop effective treatments for Menkes' sufferers.