Abstract
Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copperhistidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- CPL:
-
ceruloplasmin
- CSF:
-
cerebrospinal fluid
- Cu:
-
copper
- EEG:
-
electroencephalogram
References
Baerlocher K, Nadal D (1988) Das Menkes-Syndrom. Ergeb Inn Med Kinderheilkd 57:77–144
Baerlocher KE, Steinmann B, Rao VH, Gitzelmann R, Horn N (1983) Menkes' disease: clinical, therapeutic and biochemical studies. J Inherited Metab Dis [Suppl 2] 6:87–88
Daish P, Wheeler EM, Roberts PF, Jones RD (1978) Menkes' syndrome. Report of a patient treated from 21 days of age with parenteral copper. Arch Dis Child 53:956–958
Daly WJ, Rabinovitch HH (1981) Urotogic abnormalities in Menkes' syndrome. J Urol 126:262–264
Danks DM (1983) Hereditary disorders of copper metabolism in Wilson's disease and Menkes' disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) McGraw Hill, New York, pp 1251–1268
Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E (1972) Menkes' kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201
Garnica AD (1984) The failure of parenteral copper therapy in Menkes syndrome. Eur J Pediatr 142:98–102
Gerdes AM, Tonnesen T, Pergament E, Sander C, Baerlocher KE, Wartha R, Güttler F, Horn N (1988) Variability in clinical expression of Menkes syndrome. Eur J Pediatr (in press)
Haas RH, Robinson A, Evans K, Lascelles PT, Dubovitz V (1981) An X-linked disease of the nervous system with disorders in copper metabolism and features differing from Menkes' disease. Neurology 31:852–859
Horn N (1981) Menkes' X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females. J Prenat Diagn 1:107–120
Maehara M, Ogasawara N, Mizutani N, Watanabe K, Suzuki S (1983) Cytochrome c oxidase deficiency in Menkes' kinky hair disease. Brain Dev 5:533–540
Moore CM, Howell RR (1985) Ectodermal manifestations in Menkes disease. Clin Genet 28:532–540
Nazif MM, Frankel HH, Medina J (1978) Kinky hair disease. Report of a case. Oral Surg 46:786–790
Nooijen JL, De Groot CJ, Van den Hamer CJA, Moonens LAH, Willemse J, Niermeijer MF (1981) Trace element studies in three patients and a fetus with Menkes' disease. Effect of copper therapy. Pediatr Res 15:284–289
Onishi T, Suzue J, Nishikawa K, Muramatsu M, Miyao M (1981) Nature of copper and zinc compounds in tissues from a patient with Menkes kinky hair syndrome. Eur J Pediatr 137:17–21
Procopis P, Camakaris J, Danks DM (1981) A mild form of Menkes steely hair syndrome. J Pediatr 98:97–99
Ravin HA (1961) An improved colorimetric enzymatic assay of ceruloplasmin. J Lab Clin Med 58:1961–1966
Sternlieb I (1980) Copper and the liver. Gastroenterology 78: 1615–1628
Stevens BJ (1972) Biological applications of the carbon rod atomizer in atomic absorption spectroscopy. 2. Determinations of copper in small samples of tissue. Clin Chem 18:1379–1385
Wehinger H, Witt I, Lösel I, Denz-Seibert G, Sander C (1975) Intravenous copper in Menkes' kinky-hair syndrome. Lancet I:1143–1144
Williams DM, Atkin CL (1981) Tissue copper concentrations of patients with Menkes kinky hair disease. Am J Dis Child 135:375–376
Williams DM, Atkin CL, Frens DB, Bray PF (1977) Menkes kinky hair syndrome: studies of copper metabolism and long term copper therapy. Pediatr Res 11:823–826
Yazaki M, Wada Y, Kojima Y, Tanaka A, Kawamura N, Hirose M (1983) Copper-binding proteins in the liver and kidney from patients with Menkes' kinky hair disease. Tohoku J Exp Med 139:97–102
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Nadal, D., Baerlocher, K. Menkes' disease: long-term treatment with copper and D-penicillamine. Eur J Pediatr 147, 621–625 (1988). https://doi.org/10.1007/BF00442477
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00442477