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Health Condition

Menkes’ Disease

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.

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.

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.

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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.

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