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. 1991 Sep;28(9):615–618. doi: 10.1136/jmg.28.9.615

High 64Cu uptake and retention values in two clinically atypical Menkes patients.

T Tønnesen 1, C Garrett 1, A M Gerdes 1
PMCID: PMC1015793  PMID: 1956061

Abstract

We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beratis N. G., Price P., Labadie G., Hirschhorn K. 64Cu metabolism in Menkes and normal cultured skin fibroblasts. Pediatr Res. 1978 Jun;12(6):699–702. doi: 10.1203/00006450-197806000-00004. [DOI] [PubMed] [Google Scholar]
  2. Camakaris J., Danks D. M., Ackland L., Cartwright E., Borger P., Cotton R. G. Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem Genet. 1980 Feb;18(1-2):117–131. doi: 10.1007/BF00504364. [DOI] [PubMed] [Google Scholar]
  3. Commoner B., Vithayathil A. J., Henry J. I. Detection of metabolic carcinogen intermediates in urine of carcinogen-fed rats by means of bacterial mutagenesis. Nature. 1974 Jun 28;249(460):850–852. doi: 10.1038/249850a0. [DOI] [PubMed] [Google Scholar]
  4. Daly W. J., Rabinovitch H. H. Urologic abnormalities in Menkes' syndrome. J Urol. 1981 Aug;126(2):262–264. doi: 10.1016/s0022-5347(17)54469-9. [DOI] [PubMed] [Google Scholar]
  5. Farrelly C., Stringer D. A., Daneman A., Fitz C. R., Sass-Kortsak A. CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy). J Can Assoc Radiol. 1984 Dec;35(4):406–408. [PubMed] [Google Scholar]
  6. Gerdes A. M., Tønnesen T., Pergament E., Sander C., Baerlocher K. E., Wartha R., Güttler F., Horn N. Variability in clinical expression of Menkes syndrome. Eur J Pediatr. 1988 Nov;148(2):132–135. doi: 10.1007/BF00445920. [DOI] [PubMed] [Google Scholar]
  7. Goka T. J., Stevenson R. E., Hefferan P. M., Howell R. R. Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A. 1976 Feb;73(2):604–606. doi: 10.1073/pnas.73.2.604. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Haas R. H., Robinson A., Evans K., Lascelles P. T., Dubowitz V. An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology. 1981 Jul;31(7):852–859. doi: 10.1212/wnl.31.7.852. [DOI] [PubMed] [Google Scholar]
  9. Horn N. Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet. 1976 May 29;1(7970):1156–1158. doi: 10.1016/s0140-6736(76)91543-9. [DOI] [PubMed] [Google Scholar]
  10. Lucky A. W., Hsia Y. E. Distribution of ingested and injected radiocopper in two patients with Menkes' kinky hair disease. Pediatr Res. 1979 Nov;13(11):1280–1284. doi: 10.1203/00006450-197911000-00015. [DOI] [PubMed] [Google Scholar]
  11. Nazif M. M., Frankel H. H., Medina J. Kinky hair disease. Report of a case. Oral Surg Oral Med Oral Pathol. 1978 Dec;46(6):786–790. doi: 10.1016/0030-4220(78)90309-2. [DOI] [PubMed] [Google Scholar]
  12. Osaka K., Sato N., Matsumoto S., Ogino H., Kodama S. Congenital hypocupraemia syndrome with and without steely hair: report of two Japanese infants. Dev Med Child Neurol. 1977 Feb;19(1):62–68. doi: 10.1111/j.1469-8749.1977.tb08022.x. [DOI] [PubMed] [Google Scholar]
  13. Procopis P., Camakaris J., Danks D. M. A mild form of Menkes steely hair syndrome. J Pediatr. 1981 Jan;98(1):97–99. doi: 10.1016/s0022-3476(81)80551-3. [DOI] [PubMed] [Google Scholar]
  14. Tønnesen T., Horn N. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inherit Metab Dis. 1989;12 (Suppl 1):207–214. doi: 10.1007/BF01799296. [DOI] [PubMed] [Google Scholar]
  15. Tønnesen T., Müller-Schauenburg G., Damsgaard E., Horn N. Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease. Clin Genet. 1986 Mar;29(3):258–261. doi: 10.1111/j.1399-0004.1986.tb00821.x. [DOI] [PubMed] [Google Scholar]
  16. Wehinger H., Witt I., Lösel I., Denz-Seibert G., Sander C. Letter: Intravenous copper in Menkes' kinky-hair syndrome. Lancet. 1975 May 17;1(7916):1143–1144. doi: 10.1016/s0140-6736(75)92534-9. [DOI] [PubMed] [Google Scholar]
  17. Westman J. A., Richardson D. C., Rennert O. M., Morrow G., 3rd Atypical Menkes steely hair disease. Am J Med Genet. 1988 Jul;30(3):853–858. doi: 10.1002/ajmg.1320300324. [DOI] [PubMed] [Google Scholar]

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