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Menkes Disease by Jackie Bolen

By at February 1, 2012 | 7:18 am | Print

Menkes disease, also known as Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease or Menkes kinky hair syndrome, is a disease in which copper levels of the body are effected which then leads to a deficiency in copper levels. Copper is necessary in the human body to live. When a male child has Menkes, the intestines are unable to absorb the copper and transport it throughout the body to the necessary organs and tissues. Menkes disease can be carried by either the male or female gene, but the female can be a carrier and live a normal life. The male cannot. The disease is X-linked recessive. If the mother is a carrier she can pass it on to a daughter with no problems but if she passes it to a son, the son will show the symptoms. If the mother is not a carrier of the disease the chances of a child getting Menkes Disease is 1 and 250,000.


Prognosis for Menkes is not good. Death usually occurs within the first 10 years life for a boy with Menkes. Most deaths occur during infancy. Menkes boys can be diagnosed at as early an age as 2-3 months. This is when the baby starts showing signs. Some of the signs that lead to show a baby boy has Menkes are a failure to thrive, seizures, sagging facial features, developmental delay, and feeding difficulties.

As of today, there is no cure for Menkes. The affected boys can receive copper shots to supplement for the lack of copper required in their body, but this does not fix the problem. If a parent knows they are a carrier and have a child with Menkes, that child can start receiving copper injections straight from birth and tests have shown that the quality of life can be better. A Menkes child can also receive occupational and physical therapy, seizure medicine and a feeding tube to help the child remain comfortable during their life.

References
http://themenkesfoundation.org/research/overview.html
http://www.ninds.nih.gov/disorders/menkes/menkes.htm
http://www.ncbi.nlm.nih.gov/books/NBK22216/

 

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