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Am J Physiol Gastrointest Liver Physiol 276: G311-G314, 1999;
0193-1857/99 $5.00
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Vol. 276, Issue 2, G311-G314, February 1999

THEMES
Genetic Disorders of Membrane Transport
IV. Wilson's disease and Menkes disease*

Mark Schaefer and Jonathan D. Gitlin

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110

Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson's disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases that reside in the trans-Golgi network of all cells. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same manner within the cell and the unique clinical features of each disease are entirely the result of the tissue-specific expression of each protein. Elucidation of the basic defect in these rare genetic disorders has provided a valuable heuristic paradigm for understanding the mechanisms of cellular copper homeostasis.

Wilson's disease; Menkes disease; adenosine triphosphatase

*  Fourth in a series of invited articles on Genetic Disorders of Membrane Transport.




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