Menkes’ Disease
Also indexed as: Menkes’ Syndrome
Early diagnosis is the key to treating this rare but serious hereditary disorder. According to research or other evidence, the following self-care steps may be helpful:
- Get tested during pregnancy
- Improve the chances of successful early treatment by having your healthcare provider perform a genetic test on your baby
- Talk to your healthcare provider
- Ask about copper injections and if they are appropriate for you or your child’s condition
These recommendations are not comprehensive and are not intended to replace the advice of your doctor or pharmacist. Continue reading the full Menkes’ disease article for more in-depth, fully-referenced information on medicines, vitamins, herbs, and dietary and lifestyle changes that may be helpful.
About Menkes’ disease
Menkes’ disease is a rare hereditary disorder caused by an abnormality of copper utilization.1
Until recently, Menkes’ disease was considered universally fatal.2 However, it now appears that the severity of the disease varies from person to person.3 4 Medical doctors often use genetic analysis5 to diagnose this disorder, even before birth.6 7 In cases where the genetic defect appears responsive to copper therapy, early treatment is needed to minimize the severity of the physical defects that will develop later.8 Treatment can even begin before birth; while still pregnant, mothers of babies identified with Menkes’ disease can receive injections of copper histidine under the skin. Healthcare professionals, including geneticists (specialists in hereditary diseases), should be consulted in the treatment of Menkes’ disease.
Product ratings for Menkes’ disease
| Science Ratings | Nutritional Supplements | Herbs |
|---|---|---|
 |
Copper (injectable) |
|
 Reliable
and relatively consistent scientific data showing a substantial health benefit. Contradictory, insufficient, or preliminary studies
suggesting a health benefit or minimal health benefit. For an herb, supported by traditional use but minimal
or no scientific evidence. For a supplement, little scientific support and/or minimal health
benefit. |
||
What are the symptoms?
Menkes’ disease can lead to growth retardation, white hair that has a kinky texture, and mental deterioration.
Other therapies
There is no effective common treatment known.
Vitamins that may be helpful
Copper injections are used to treat Menkes’ disease. The success of this treatment often depends on the severity of the disease.
Some studies have shown favorable effects of injectable copper on brain and nerve development in people with Menkes’ disease when the degree of genetic defect was mild and treatment was begun early.9 However, copper therapy does not benefit Menkes’ patients if the genetic defects are severe, or if therapy is begun after the physical defects manifest.10 Some researchers have observed that damaging levels of copper can build up in the tissues of some copper-treated people with Menkes’ disease.11 For example, in one study a boy developed low blood pressure in response to changing body position (called orthostatic hypotension), an enlarged spleen, and ballooning of an artery in his abdomen. However, whether these anomalies resulted from therapy or from the Menkes’ disease itself remains unclear. As a result, copper therapy is still considered experimental12 and potentially dangerous. People with Menkes’ disease should consult a healthcare professional before supplementing with copper.
In 1989, one researcher suggested that Menkes’ disease is caused by a defect in zinc metabolism that reduces copper availability.13 The possibility of this zinc-copper interaction in Menkes’ disease has since been investigated in preliminary test tube research.14 15 16 17 These studies have shown that supplementation with zinc does not alter the way cells from people with Menkes’ disease use copper. Therefore, zinc supplementation is unlikely to be beneficial in Menkes’ disease.
Are there any side effects or interactions?
Refer to the individual supplement for information about any side effects or interactions.
References
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The information presented in Healthnotes is for informational purposes only. It is based on scientific studies (human, animal, or in vitro), clinical experience, or traditional usage as cited in each article. The results reported may not necessarily occur in all individuals. For many of the conditions discussed, treatment with prescription or over the counter medication is also available. Consult your doctor, practitioner, and/or pharmacist for any health problem and before using any supplements or before making any changes in prescribed medications. Information expires September 2008.