Menkes’ Disease (Holistic)Skip to the navigation
About This Condition
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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.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.
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.
9. Ambrosini L, Mercer JF. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet 1999;8:1547-55.
10. Daish P, Wheeler EM, Roberts PF, Jones RD. Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper. Arch Dis Child 1978;53:956-8.
11. Garnica AD. The failure of parenteral copper therapy in Menkes Kinky hair syndrome. Eur J Pediatr 1984;142:98-102.
12. Christodoulou J, Danks DM, Sarkar B, et al. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998;76:154-64.
13. Scheinberg IH, Collins JC. Menkes' disease: a disorder of zinc metabolism? Lancet 1989;1(8638):619 [letter].
14. Sone T, Yamaoka K, Minami Y, Tsunoo H. Induction of metallothionein synthesis in Menkes' and normal lyphoblastoid cells is controlled by the level of intracellular copper. J Biol Chem 1987;262:5878-85.
15. Herd SM, Camakaris J, Christofferson R, et al. Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines. Biochem J 1987;247:341-7.
16. Van den Berg GJ, Kroon JJ, Wijburg FA, et al. Muscle cell cultures in Menkes' disease: copper accumulation in myotubules. J Inhert Metab Dis 1990;13:207-11.
17. Rayner MH, Suzuki KT. Effect of medium copper concentration on the growth, uptake and intracellular balance of copper and zinc in Menkes's and normal control cells. Biometals 1994;7:253-60.
Last Review: 03-24-2015
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