|
|
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.