Menkes disease

Menkes disease is caused by mutations in the ATP7A gene that regulates the metabolism of copper in the body. 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.

Infants may be born prematurely but appear healthy at birth and for six to eight weeks. Then, symptoms begin. These can include:

• Floppy muscle tone
• Seizures
• Failure to thrive (slow physical development)

Menkes disease is also characterized by an unstable body temperature and strikingly tangled hair, which is colorless or steel-colored, sparse, and known to break easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may 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.

Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.

Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor.

How can I or my loved one help improve care for people with Menkes disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Menkes disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Menkes disease at Clinicaltrials.gov.

Where can I find more information about Menkes disease?

Information may be available from the following resource:

National Organization for Rare Disorders (NORD)
Phone: 800-999-6673

Content source: https://www.ninds.nih.gov/health-information/disorders/menkes-disease Accessed June 23, 2023.

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