Menkes Disease - Caused by a mutation in the ATP7A gene, which is responsible for
making a protein that regulates the distribution of copper in the body. As a result
of the mutation, some organs, notably the small intestine and kidney, have abnormally
high copper levels, while others have dangerously low levels of copper.
The body requires copper in order to produce a number of enzymes essential to a healthy
metabolism.
Also known as:
Menkes Syndrome.
Copper Transport Disease.
Steely Hair Disease.
Kinky Hair Disease.
Menkes Kinky Hair Syndrome.
If administered within the first few months of life, copper histidinate appears to
be effective in increasing the life expectancy of some people. However, this treatment
only increases life expectancy from three to thirteen years of age, so can only be
considered a palliative.
Metaphysis may occur - where the portion of long bones in which the growth plates
are located, to widen.
Babies with Menkes syndrome are often irritable and difficult to feed. The most well
known symptom of the disorder, which gives it the name of kinky hair disease, is
silvery or colourless, brittle, and coarse hair.
In a milder form of Menkes syndrome, known as occipital horn syndrome, calcium deposits
at the base of the skull, loose skin and joints, and coarse hair begin to appear
during childhood. The deposits on the skull grow over the occipital bone and are
called occipital horns. Occipital horn syndrome can also cause deformities of the
elbow, clavicles, hips and pelvis, and dislocation of the head of the radius or elbow.
