What is Menkes Disease?

Published:

Menkes Disease is caused by a defective gene that regulates the metabolism of copper in the body. Because it is an X-linked gene, the disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely. Symptoms appear during infancy. Normal or slightly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of early developmental skills. Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain. Arteries in the brain can also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

Is there any treatment?
Early treatment with subcutaneous (under the skin) or intravenous (in a vein) injections of copper supplements may be of some benefit. Other treatment is symptomatic and supportive.

What is the prognosis?
The prognosis for individuals with Menkes disease is poor. Most children with Menkes Disease die within the first decade of life.

What research is being done?
The NINDS supports research on gene-linked neurodegenerative disorders such as Menkes Disease. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.