Advertisement

Genetic Disorders of Copper Transport: Menkes’ Disease, Occipital Horn Syndrome, and Wilson’s Disease

  • David M. Danks
Conference paper

Abstract

Unfortunately, these three genetic diseases have yet to contribute to our understanding of copper transport the revelations that we geneticists expect from “experiments of nature”. Nonetheless, I still have faith that the resolution of the basic defects in these conditions will eventually play a critical role in giving us a complete understanding of this process. Therefore we battle on.

Keywords

Copper Deficiency Copper Transport Cholestatic Liver Disease Copper Accumulation Hepatic Copper 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Danks DM (1988) The mild form of Menkes disease: progress report on original case. Am J Med Genet 30: 859–864PubMedCrossRefGoogle Scholar
  2. Danks DM (1989) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Vallee D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New YorkGoogle Scholar
  3. Darwish HM, Hoke JE, Ettinger MJ. (1983) Kinetics of Cu(II) transport and accumulation by hepatocytes from copper-deficient mice and the brindled mouse model of Menkes disease. J of Biol Chem. 258, pp 13621–13626.Google Scholar
  4. Gerdes AM, Tonnesen T, Pergament E, Sander C, Baerlocher KE, Wartha R, Guttler F, Horn N. (1988) Variability in clinical expression of Menkes syndrome. Eur J Pediatr; 148: 132–5PubMedCrossRefGoogle Scholar
  5. Herd SM, Camakaris J, Christofferson R, Wookey P, Danks DM. (1987) Uptake and efflux of copper-64 in Menkes’ disease and normal continuous lymphoid cell lines. Biochem J 247: 341–347.PubMedGoogle Scholar
  6. Iyengar V, Brewer GJ, Dick RD, Owyang C. (1988) Studies of cholecystokinin-stimulated biliary secretions reveal a high molecular weight copper-binding substance in normal subjects that is absent in patients with Wilson’s disease. J Lab Clin Med, 111: 267–74.PubMedGoogle Scholar
  7. Kapur S, Higglns JV, Delp K, Rogers B. (1987) Menkes syndrome in a girl with X-autosome translocation. Am J Med Genet 26: 503–510.PubMedCrossRefGoogle Scholar
  8. Kuivaniemi H, Peltonen L, Kivirikko KI. (1985) Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. Am J Hum Genet 37: 798–808PubMedGoogle Scholar
  9. McArdle H, Gross SM, Creaser I, Sargeson AM, Danks DM. (1989) Am J Physiol 256: G667–G672PubMedGoogle Scholar
  10. Nadal D, Baerlocher K. (1988) Menkes’ disease: long-term treatment with copper and D-penicillamine. Eur J Pediatr; 147: 621–5.PubMedCrossRefGoogle Scholar
  11. Palida F, Waldrop G, Plonergan, Ettinger M. (1988) Cytosolic Cu-binding components and the brindled mouse defect. In: Hurley LS, Keen CL, Lonnerdal B, Rucker RB. (eds) Trace elements in man and animals 6. Plenum Press, New York p. 297–298.Google Scholar
  12. Phillips M, Camakaris J, Danks DM. (1986) Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13 day old mice. Biochem J 238: 23–27.Google Scholar
  13. Rauch H, Dupuy D, Stockert RJ, Sternlieb I. (1986) Hepatic copper and superoxide dismutase activity in toxic milk mutant mice. In: Rotilio G, (ed) Superoxide and superoxide dismutase in chemistry, biology and medicine. Elsevier.Google Scholar
  14. Sartoris DJ, Luzzutti L, Weaver DD, Macfarlane JD, Hollister DW, Parker BR (1984) Type IX Ehlers-Danlos syndrome: a new variant with pathogenic radiographic features. Radiology 152: 665–670PubMedGoogle Scholar
  15. Scheinberg IH, Sternleib I, Schilsky M, Stockert RJ, (1987) Penicillamine may detoxify copper in Wilson’s disease. Lancet 1: 95.CrossRefGoogle Scholar
  16. Sherwood G, Sarkar B, Sasskortsak A. Copper histidinate therapy in Menkes’ disease: prevention of progressive neurodegeneration. J Inher & Metab Dis (in press)Google Scholar
  17. Starosta-Rubinstein S, Young AB, Kluin K. (1987) Clinical assessment of 31 patients with Wilson’s disease. Arch Neurol 44, 365–370.PubMedGoogle Scholar
  18. Walshe JM (1986) Tetrathiomolybdate (M0S4) as an anti-copper agent in man. In: Scheniberg IH, Walsh JM (eds) Orphan diseases/orphan drugs. Manchester Uni. Press.Google Scholar
  19. Westman JA, Richardson DC, Rennert OM, Morrow G. (1988) Atypical Menkes steely hair disease. Am J Med Genet 30: 853–8.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Tokyo 1990

Authors and Affiliations

  • David M. Danks
    • 1
  1. 1.Murdoch InstituteRoyal Children’s HospitalMelbourneAustralia

Personalised recommendations