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.
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What are the symptoms?
Menkes’ disease can lead to growth retardation, white hair that has a kinky texture,
and mental deterioration.
Medical options
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: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.