From gene to disease; Wilson disease: copper storage due to mutations in ATP7B
Stapelbroek, J.M.; Ploos van Amstel, J.K.; van Hattum, J.; van den Berg, L.H.; Klomp, L.W.J.; Houwen, R.H.J.
Nederlands Tijdschrift Voor Geneeskunde 147(13): 603-605
2003
ISSN/ISBN: 0028-2162 PMID: 12701394 Document Number: 555192
Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.
Document emailed within 1 workday
Related Documents
Seidel, J.; Caca, K.; Schwab, S.G.; Berr, F.; Wildenauer, D.B.; Mentzel, H.J.; Horn, N.; Kauf, E. 2001: Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD) Cellular and Molecular Biology 47 Online Pub: Ol149-Ol157Kobayashi, S.; Ochiai, T.; Hori, S.; Suzuki, T.; Shimizu, T.; Gunji, Y.; Shimada, H.; Yamamoto, S.; Ogawa, A.; Kohno, Y.; Sunaga, M.; Shimazu, M.; Tanaka, K. 2001: Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor Hepato-Gastroenterology 48(41): 1259-1261
McQuaid, A.; Lamand, M.; Mason, J. 1992: The interactions of penicillamine with copper in vivo and the effect on hepatic metallothionein levels and copper/zinc distribution: the implications for Wilson's disease and arthritis therapy Journal of Laboratory and Clinical Medicine 119(6): 744-750
Aldenhoven, M.; Klomp, L.W.; van Hasselt, P.M.; de Koning, T.J.; Visser, G. 2007: From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect Nederlands Tijdschrift Voor Geneeskunde 151(41): 2266-2270
Odièvre, M.; Benard, J.M.; Debray, H.; Neveu, Y.; Leleu, C.; Yvart, J.; Labrune, P.; Archambaud, F.; Bedossa, P.; Le Stradic, C. 1988: Wilson's disease with liver copper in normal concentration Archives Francaises de Pediatrie 45(8): 565-567
Guérin, J.M.; Raux, M.; Meresse, S.; Lamotte, M. 1982: Peritoneal dialysis for eliminating copper in patients with Wilson's disease La Semaine des Hopitaux: Organe Fonde Par l'Association d'Enseignement Medical des Hopitaux de Paris 58(10): 613-615
Yuzbasiyan-Gurkan, V.; Brewer, G.J.; Abrams, G.D.; Main, B.; Giacherio, D. 1989: Treatment of Wilson's disease with zinc. V. Changes in serum levels of lipase, amylase, and alkaline phosphatase in patients with Wilson's disease Journal of Laboratory and Clinical Medicine 114(5): 520-526
Wawschinek, O.; Beyer, W. 1982: Determination of copper in liver puncture samples in the diagnosis of Wilson's disease Journal of Clinical Chemistry and Clinical Biochemistry 20(12): 929-930
Degli Esposti, A.; Antener, I.; Ambrosioni, G.; Bonfiglioli, G. 1976: Wilson's disease. Summary of studies carried out in a family group with Wilson's disease. Significance of amino-acid balance in homo and heterozygotes for the detection of liver damage Minerva Pediatrica 28(34): 2063-2086
Lee, H.H.; Hill, G.M.; Sikha, V.K.; Brewer, G.J.; Prasad, A.S.; Owyang, C. 1990: Pancreaticobiliary secretion of zinc and copper in normal persons and patients with Wilson's disease Journal of Laboratory and Clinical Medicine 116(3): 283-288
Diaz, J.; Acosta, F.; Cañizares, F.; Bueno, F.S.; Tornel, P.L.; Tovar, I.; Contreras, R.F.; Marquez, M.; Martinez, P.; Parrilla, P. 1995: Does orthotopic liver transplantation normalize copper metabolism in patients with Wilson's disease? Transplantation Proceedings 27(4): 2306
Suzuki, K.T. 1995: Disordered copper metabolism in LEC rats, an animal model of Wilson disease: roles of metallothionein Research Communications in Molecular Pathology and Pharmacology 89(2): 221-240
Marecek, Z.; Heyrovský, A.; Volek, V. 1975: The effect of long term treatment with penicillamine on the copper content in the liver in patients with Wilson's disease Acta Hepato-Gastroenterologica 22(5): 292-296
Riedel, H.D.; Fitscher, B.A.; Hefter, H.; Strohmeyer, G.; Stremmel, W. 1994: Cloning the Wilson disease gene Zeitschrift für Gastroenterologie 32(8): 472-473
Kok, K.F.; Hoevenaars, B.; Waanders, E.; Drenth, J.P.H. 2008: Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient Netherlands Journal of Medicine 66(8): 348-350
Kamoun, P.; Cadoudal, M.; Rabier, D.; Jérôme, H. 1986: Detection of Wilson's disease in sibs of a patient with Wilson's disease Clinical Chemistry 32(2): 392
Van Woerden, C.S.; Groothof, J.W.; Wanders, R.J.A.; Waterham, H.R.; Wijburg, F.R. 2006: From gene to disease; primary hyperoxaluria type i caused by mutations in the AGXT gene Nederlands Tijdschrift Voor Geneeskunde 150(30): 1669-1672
De Haan, G.J.; Halley, D.J.J.; Deelen, W.H.; Lindhout, D. 2002: From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene Nederlands Tijdschrift Voor Geneeskunde 146(18): 846-848
Fehmann, H.C.; Göke, B. 1994: One gene--four diseases: on the importance of mutations in the ret gene in MEN 2A, MEN 2B, Hirschsprung disease and medullary thyroid carcinoma Zeitschrift für Gastroenterologie 32(7): 416-417
Yang, R.; Fan, Y.; Yu, L. 1997: Identification of a novel missense mutation in Wilson disease gene Zhonghua Yi Xue Za Zhi 77(5): 344-347