Menkes Disease

Menkes disease, commonly known as kinky hair syndrome, was discovered in 1962 by a pediatrician named John Menkes. It is a disorder that is caused by mutations in the ATP7A gene and is transmitted as an x-linked recessive trait. This gene is responsible for making a protein that regulates the distribution of copper. When there is a mutation on the gene it affects copper levels in the body which can lead to some tissues like the small intestine and kidneys getting a build up of copper or other tissues such as the brain getting a lack of copper.  

People with Menkes disease usually develop symptoms during infancy. These symptoms include sparse kinky hair, failure to gain weight, seizures, the deterioration of the nervous system and many more. Copper injections, different types of occupational therapy, and physical therapy are many times used to help children with Menkes disease, but there is no cure, and many will die before the age of three.

There are many groups and organizations that provide information about Menkes disease. One called, The Menkes Foundation was founded in memory of Wesley Quinn Eckman. It not only gives background on the disease, but is a source of support and offers ways to contact others who knew or experienced the disease.

By, Ana Sulentic


Resources

• NCBI-Menkes Syndrome
• Genetics Home Reference-Menkes Syndrome
• Diseases and Disorders-Menkes Disease
• NINDS- Menkes Disease info page
• NIH-What are the treatments for Menkes disease
• The Menkes Foundation