Menkes' Disease (Holistic)
About This Condition
Get tested during pregnancy
Improve the chances of successful early treatment by having your doctor perform a genetic test on your baby
Talk to your doctor
Ask about copper injections and if they are appropriate for you or your child's condition
About This Condition
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.
Menkes' disease can lead to growth retardation, white hair that has a kinky texture, and mental deterioration.
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Consult a qualified healthcare practitioner regarding copper injections
Some studies have shown favorable effects of injectable copper on brain and nerve development when treatment was begun early and the degree of genetic defect was mild.
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. However, copper therapy does not benefit Menkes' patients if the genetic defects are severe, or if therapy is begun after the physical defects manifest. Some researchers have observed that damaging levels of copper can build up in the tissues of some copper-treated people with Menkes' disease. 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 experimental 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. The possibility of this zinc-copper interaction in Menkes' disease has since been investigated in preliminary test tube research. 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.
1. Danks DM. Inborn errors of trace element metabolism. Clin Endocrinol Metab 1985;14:591-615.
2. Scheinberg IH, Collins JC. Menke's disease: a disorder of zinc metabolism? Lancet 1989;1(8638):619.
3. Kaler SG, Buist NR, Holmes CS, et al. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol 1995;38:921-8.
4. Cordano A. Clinical manifestations of nutritional copper deficiency in infants and children. Am J Clin Nutr 1998;67:1012S-6S.
5. Tumer Z, Moller LB, Horn N. Mutation spectrum of APTP7A, the gene defective in Menkes disease. Adv Exp Med Biol 1999;448:83-95.
6. Kaler SG. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr1998;67:1029S-34S.
7. Tumer Z, Tonneson T, Bohmann J, et al. First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 1994;31:615-7.
8. Sarkar B, Lingertat-Walsh K, Clarke JT. Copper-histidine therapy for Menkes disease. J Pediatr 1993;123:828-30.
Last Review: 03-24-2015
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The information presented by 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. Self-treatment is not recommended for life-threatening conditions that require medical treatment under a doctor's care. 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 December 2018.