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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.
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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.
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