Wilson disease

Common Name(s)

Wilson disease

Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body.  The buildup of copper leads to damage in the kidneys, brain, and eyes.  Although copper accumulation begins at birth, symptoms of the disorder typically appear later in life.  Wilson disease is caused by a mutation of the ATP7B gene. People who have Wilson disease cannot release copper from the liver at a normal rate, causing a buildup of copper in the body.  This condition is inherited in an autosomal recessive manner. Treatment includes removing excess copper from the body, reducing intake of foods that are rich in copper and treating any liver or central nervous system damage. Lifelong treatment is required.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details
Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

Last Updated: 10 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

http://www.wilsonsdisease.org

Last Updated: 10 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wilson disease" returned 129 free, full-text research articles on human participants. First 3 results:

Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging.
 

Author(s): Xiang-Xue Zhou, Hao-Lin Qin, Xun-Hua Li, Hai-Wei Huang, Ying-Ying Liang, Xiu-Ling Liang, Xiao-Yong Pu

Journal: Neurol India. ;62(4):362-6.

 

The aim of this study was to evaluate the feasibility of characterizing the brain-mineral deposition in patients with Wilson disease (WD) using susceptibility-weighted imaging (SWI).

Last Updated: 20 Sep 2014

Go To URL
Biochemical staging of the chronic hepatic lesions of Wilson disease.
 

Author(s): Yoshiaki Katano, Kazuhiko Hayashi, Ai Hattori, Yasuaki Tatsumi, Jun Ueyama, Shinya Wakusawa, Motoyoshi Yano, Hidenori Toyoda, Takashi Kumada, Naoki Mizutani, Hisao Hayashi, Hidemi Goto

Journal: Nagoya J Med Sci. 2014 Feb;76(1-2):139-48.

 

Copper toxicity steadily affects the livers of patients with Wilson disease. However, the toxic effect of copper on serum aspartate and alanine aminotransferase levels remains to be clarified as a prerequisite for diagnostic tests. The clinical records of 33 cases were analyzed to ...

Last Updated: 18 Aug 2014

Go To URL
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
 

Author(s): Elena V Polishchuk, Mafalda Concilli, Simona Iacobacci, Giancarlo Chesi, Nunzia Pastore, Pasquale Piccolo, Simona Paladino, Daniela Baldantoni, Sven C D van IJzendoorn, Jefferson Chan, Christopher J Chang, Angela Amoresano, Francesca Pane, Piero Pucci, Antonietta Tarallo, Giancarlo Parenti, Nicola Brunetti-Pierri, Carmine Settembre, Andrea Ballabio, Roman S Polishchuk

Journal: Dev. Cell. 2014 Jun;29(6):686-700.

 

Copper is an essential yet toxic metal and its overload causes Wilson disease, a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes. However, the trafficking mechanisms of ATP7B remain ...

Last Updated: 25 Jun 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wilson disease" returned 6 free, full-text review articles on human participants. First 3 results:

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 

Author(s): P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal: J. Med. Genet.. 2007 Nov;44(11):673-88.

 

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting ...

Last Updated: 2 Nov 2007

Go To URL
[Wilson disease: an update].
 

Author(s): Jeong Kee Seo

Journal: Korean J Hepatol. 2006 Sep;12(3):333-63.

 

Wilson disease (WD) is an autosomal recessive disorder of copper transport that results in accumulation of copper primarily in the liver, the brain and the cornea. WD is the most common inherited liver disease with the prevalence of 1: 37,000 in the pediatric population in Korea. ...

Last Updated: 25 Sep 2006

Go To URL
Molecular mechanism of copper transport in Wilson disease.
 

Author(s): Negah Fatemi, Bibudhendra Sarkar

Journal: Environ. Health Perspect.. 2002 Oct;110 Suppl 5():695-8.

 

Wilson disease is an autosomal recessive disorder of copper metabolism. The Wilson disease protein is a putative copper-transporting P-type ATPase, ATP7B, whose malfunction results in the toxic accumulation of copper in the liver and brain, causing the hepatic and/or neurological ...

Last Updated: 11 Nov 2002

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
 

Status: Recruiting

Condition Summary: Wilson Disease

 

Last Updated: 28 Apr 2015

Go to URL

Last Updated: 24 Apr 2015

Go to URL
Inhibitory rTMS in Dystonic Wilson Patients
 

Status: Recruiting

Condition Summary: Wilson Disease; Movement Disorders; Repetitive Transcranial Magnetic Stimulation

 

Last Updated: 11 Apr 2014

Go to URL