Abstract
Wilson's disease is a rare autosomal recessive disease characterised by the deposition of copper in the brain, liver, cornea, and other organs. The overload of copper inevitably leads to progressive liver and neurological dysfunction. Copper overload in patients with Wilson's disease is caused by impairment to the biliary route for excretion of dietary copper. A combination of neurological, psychiatric and hepatic symptoms can make the diagnosis of Wilson's disease challenging. Most symptoms appear in the second and third decades of life. The disease affects between one in 30,000 and one in 100,000 individuals, and is fatal if left untreated. Five drugs are currently available to treat Wilson's disease: British Anti-Lewisite; D-penicillamine; trientine; zinc sulfate or acetate; and ammonium tetrathiomolybdate. Each drug can reduce copper levels and/or transform copper into a metabolically inert and unavailable form in the patient. The discovery and introduction of these five drugs owes more to the inspiration of a few dedicated physicians and agricultural scientists than to the resources of the pharmaceutical industry.
Keywords
References
1.
Wilson S.A.K.
(1912 ) Brain , 34 , 295 .
2.
Compston A.
(2009 ) Brain , 132 , 1997 .
3.
Bearn A.G.
(1953 ) Am. J. Med. , 15 , 442 .
4.
Cumings J.N.
(1959 ) Heavy metals and the brain , Blackwell Scientific Publications , Oxford .
5.United States National Library of Medicine Medical Subject Heading (MeSH) definition (2012 ).
6.
Ala A.
,
Walker A.P.
,
Ashkan K.
,
Dooley J.S.
, and
Schilsky M.L.
(2007 ) Lancet , 369 , 397 .
7.
Vilensky J.A.
, and
Redman K.
(2003 ) Ann. Emerg. Med. , 41 , 378 .
8.
Scheinberg I.H.
, and
Sternlieb I.
(1984 ) Wilson's disease , pp 145 –146 . W.B. Saunders Co. , Philadelphia .
9.
10.
Walshe J.M.
(1956 ) Am. J. Med. , 21 , 487 .
11.
Walshe J.M.
(1956 ) Lancet , 267 , 25 .
12.
Crooks H.M.
Jr.
(1949 ) In:
Clarke H.T.
,
Johnson J.R.
, and
Robinson R.
(eds), The chemistry of penicillin , p. 455 . Princeton University Press , New Jersey .
13.
Walshe J.M.
(2009 ) Copper: quest for a cure , Bentham eBooks , eISBN: 978-1-60805-060-4.
14.
Walshe J.M.
(1953 ) Q. J. Med. , 22 , 483 .
15.
Obituary of J. C. Sheehan; National Academy of Sciences Biographical Memoirs at http://www.nasonline.org/publications/biographical-memoirs/alphabetical-listing/memoirs-s.html
16.
Wilson J.E.
, and
du Vigneaud V.
(1950 ) J. Biol. Chem. , 184 , 63 .
17.
Lowther J.
,
Beattie A.E.
,
Langridge-Smith P.R.R.
,
Clarke D.J.
, and
Campopiano D.J.
(2012 ) Med. Chem. Commun. , 3 , 1003 .
18.
Osborn S.B.
,
Szaz K.F.
, and
Walshe J.M.
(1969 ) Q. J. Med. , 38 , 467 .
19.
Walshe J. M.
(1960 ) Lancet , 275 , 188 .
20.
Scheinberg I.H.
, and
Sternlieb I.
(1960 ) Am. J. Med. , 29 , 316 .
21.
Weigert W. M.
,
Offermanns H.
, and
Scherberich P.
(1975 ) Angew. Chem. Int. Ed. Engl. , 14 , 330 .
22.EASL Clinical Practice Guidelines: Wilson's disease (2012 ) J. Hepatol. , 56 , 671 .
23.
Schilsky M.L.
(2001 ) Curr. Gastroenterol. Rep. , 3 , 54 .
24.
Walshe J.M.
(2005 ) Curr. Treat. Options Gastroenterol. , 8 , 467 .
25.
Yoshinari N.
,
Nagao Y.
,
Yokoi A.
2012 ) Dalton. Trans. , 41 , 11259 .
26.
Birker P.J.M.W.
L, and
Freeman H.C.
(1977 ) J. Am. Chem. Soc. , 99 , 6890 .
27.
Laurie S.H.
, and
Prime D.M.
(1979 ) J. Inorg. Biochem. , 11 , 229 .
28.
Walshe J.M.
(1973 ) Q. J. Med. , 42 , 441 .
29.
Tran-Ho L-C.
,
May P.M.
, and
Hefter G.T.
(1997 ) J. Inorg. Biochem. , 68 , 225 .
30.
Scheinberg I.H.
,
Sternlieb I.
,
Schilsky M.
, and
Stockert R.J.
(1987 ) Lancet , 330 , 95 .
31.
Gray L.W.
,
Peng F.
,
Molloy S.A.
2012 ) PLoS ONE , 7 , Issue 6 , e38327 .
32.
Walshe J.M.
(1969 ) Lancet , 294 , 1401 .
33.
Gibbs K.
, and
Walshe J.M.
(1977 ) Clin. Sci. Mol. Med. , 53 , 317 .
34.
Walshe J.M.
(1979 ) In:
Papadatos C.J.
, and
Bartsocas C.S.
(eds), The management of genetic disorders , pp. 271 –280 . Alan R. Liss, Inc. , New York .
35.
Laurie S.H.
, and
Sarkar B.
(1977 ) J. Chem. Soc., Dalton Trans. , 1822 .
36.
Dixon H.B.F.
,
Gibbs K.
, and
Walshe J.M.
(1972 ) Lancet , 299 , 853 .
37.
Purchase R.
(2005 ) J. Chem. Res. , 233 .
38.
Lu J.
(2010 ) Mol. Cancer Ther. , 9 , 2458 .
39.
Jones M.M.
,
Singh P.K.
,
Zimmerman L.J.
1995 ) Chem. Res. Toxicol. , 8 , 942 .
40.
Schouwink G.
(1986 ) In:
Scheinberg I.H.
, and
Walshe J.M.
(eds), Orphan diseases and orphan drugs , pp. 56 –61 . Manchester University Press , Manchester .
41.
Dick A.T.
(1953 ) Aust. Vet. J. , 29 , 18 .
42.
Dick A.T.
(1954 ) Aust. J. Agric. Res. , 5 , 511 .
43.
Hoogenraad T.
(1996 ) Wilson's disease , W.B. Saunders Co. Ltd. , London .
44.
Hui J.
, and
Tang N.L.
(2012 ) Orphan Drugs: Res. Rev. , 2 , 35 .
45.
Weiss K.H.
,
Gotthardt D.N.
,
Klem D.
2011 ) Gastroenterology , 140 , 1189 .
46.
Hall A.C.
,
Young B.W.
, and
Bremner I.
(1979 ) J. Inorg. Biochem. , 11 , 57 .
47.
Cortese A.
,
Zangaglia R.
,
Lozza A.
2011 ) Mov. Disord. , 26 , 2449 .
48.
Ferguson W.S.
,
Lewis A.H.
, and
Watson S.J.
(1940 ) Bull. Jealott's Hill Res. Stn. , No. 1.
49.
Ferguson W.S.
,
Lewis A.H.
, and
Watson S.J.
(1943 ) J. Agric. Sci. , 33 , 44 .
50.
Dick A.T.
, and
Bull L.B.
(1945 ) Aust. Vet. J. , 21 , 70 .
51.
Dick A.T.
(1953 ) Nature , 172 , 637 .
52.
Suttle N.F.
(1974 ) Proc. Nutr. Soc. , 33 , 299 .
53.
Dick A.T.
,
Dewey D.W.
, and
Gawthorne J.M.
(1975 ) J. Agric. Sci. , 85 , 567 .
54.
Bremner I.
, and
Mills C.F.
(1986 ) In:
Scheinberg I.H.
, and
Walshe J.M.
(eds), Orphan diseases and orphan drugs , pp. 68 –75 . Manchester University Press , Manchester .
55.
Müller A.
,
Diemann E.
,
Jostes R.
, and
Bögge H.
(1981 ) Angew. Chem. Int. Ed. Engl. , 20 , 934 .
56.
Walshe J.M.
(1986 ) In In:
Scheinberg I.H.
, and
Walshe J.M.
(eds), Orphan diseases and orphan drugs , pp. 76 –85 . Manchester University Press , Manchester .
57.
Laurie S.H.
(2000 ) Eur. J. Inorg. Chem. , 2443 .
58.
Walshe J.M.
(2009 ) Brain , 132 , 2289 .
59.
Chandrasekaran J.
,
Ansari M.A.
, and
Sarkar S.
(1987 ) J. Less-Common Met. , 134 , L23 –L25 .
60.
Brewer G.J.
,
Askari F.
,
Dick R.B.
2009 ) Transl. Res. , 154 , 70 .
61.
Brewer G.J.
,
Hedera P.
,
Kluin K.J.
2003 ) Arch. Neurol. , 60 , 379 .
62.
Zhang L.
,
Lichtmannegger J.
,
Summer K.H.
2009 ) Biochemistry , 48 , 891 .
63.
Alvarez H.M.
,
Xue Y.
,
Robinson C.D.
2010 ) Science , 327 , 331 .
64.
Quagraine E.K.
,
Georgakaki I.
, and
Coucouvanis D.
(2009 ) J. Inorg. Biochem. , 103 , 143 .
65.
Bickel H.
,
Neale F.C.
, and
Hall G.
(1957 ) Q. J. Med. , 26 , 527 .
66.
Walshe J.M.
(1996 ) Q. J. Med. , 89 , 553 .
67.
Scott L. E.
, and
Orvig C.
(2009 ) Chem. Rev. , 109 , 4885 .
68.
Rodríguez-Rodríguez C.
,
Telpoukhovskaia M.
, and
Orvig C.
(2012 ) Coord. Chem. Rev. , 256 , 2308 .
69.
Delangle P.
, and
Mintz E.
(2012 ) Dalton Trans. , 41 , 6359 .
70.
Merle U.
,
Stremmel W.
, and
Encke J.
(2007 ) Curr. Gene Ther. , 7 , 217 .
71.
Nevitt T.
,
öhrvik H.
, and
Thiele D.J.
(2012 ) Biochim. Biophys. Acta , 1823 , 1580 .
72.
Purchase R.
(2013 ) Sci. Prog. , 96 , in press