scholarly journals Wilson's disease: Changes in methionine metabolism and inflammation affect global DNA methylation in early liver disease

Hepatology ◽  
2013 ◽  
Vol 57 (2) ◽  
pp. 555-565 ◽  
Author(s):  
Valentina Medici ◽  
Noreene M. Shibata ◽  
Kusum K. Kharbanda ◽  
Janine M. LaSalle ◽  
Rima Woods ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Liver Disease ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Global Dna Methylation ◽  
Methionine Metabolism

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

2020 ◽  
pp. 2115-2120
Author(s):  
Michael L. Schilsky ◽  
Pramod K. Mistry
Keyword(s):  
Liver Disease ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Wilson’S Disease ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Copper Transport ◽  
Loss Of Function ◽  
Copper Excretion ◽  
P Type

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described, each with distinct phenotypes. Wilson’s disease—an uncommon disorder (1 in 30 000) caused by autosomal recessive loss-of-function mutations in a metal-transporting P-type ATPase (ATP7B) that result in defective copper excretion into bile and hence copper toxicity. Typical presentation is in the second and third decade of life with liver disease (ranging from asymptomatic to acute fulminant hepatic failure or chronic end-stage liver disease) or neurological or psychiatric disorder (dystonia, dysarthria, parkinsonian tremor, movement disorder, a spectrum of psychiatric ailments). While no single biochemical test or clinical finding is sufficient for establishing the diagnosis, typical findings include low serum ceruloplasmin, high urinary copper excretion, and elevated liver copper content. Corneal Kayser–Fleischer rings may be seen. Treatment is with copper chelating agents and zinc. Liver transplantation is required for fulminant hepatic failure and decompensated liver disease unresponsive to medical therapy. Menkes’ disease—a rare disorder (1 in 300 000) caused by X-linked loss-of-function mutations in a P-type ATPase homologous to ATP7B (ATP7A) that result in defective copper transport across intestine, placenta, and brain and hence cellular copper deficiency. Clinical presentation is in infancy with facial dimorphism, connective tissue disorder, hypopigmentation, abnormal hair, seizures, and failure to thrive, usually followed by death by age 3 years (although some variants with a milder phenotype result from milder mutations, e.g. occipital horn syndrome). Treatment, which is only effective when presymptomatic diagnosis is made in a sibling after florid presentation in a previous affected sibling, is with intravenous copper histidine.

scholarly journals Differences of Accumulated Heavy Metal Levels in End-Stage Liver Disease, Wilson’s Disease, and Other Etiologies

2021 ◽  
Vol 13 (3) ◽  
pp. 184-193
Author(s):  
Sinan Hatipoğlu ◽  
Abuzer Dirican ◽  
Mustafa Ateş ◽  
Muhammer Özgür Çevik ◽  
Önder Yumrutaş ◽  
...  
Keyword(s):  
Heavy Metal ◽  
Liver Disease ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
End Stage Liver Disease ◽  
Metal Levels ◽  
End Stage

scholarly journals Zinc as a Drug for Wilson’s Disease, Non-Alcoholic Liver Disease and COVID-19-Related Liver Injury

Molecules ◽  
2021 ◽  
Vol 26 (21) ◽  
pp. 6614
Author(s):  
Pierpaolo Coni ◽  
Giuseppina Pichiri ◽  
Joanna Izabela Lachowicz ◽  
Alberto Ravarino ◽  
Francesca Ledda ◽  
...  
Keyword(s):  
Liver Disease ◽  
Zinc Deficiency ◽  
Alcoholic Liver Disease ◽  
Wilson’S Disease ◽  
Severe Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Aged People ◽  
Positive Effects ◽  
Zinc Levels

Zinc is the second most abundant trace element in the human body, and it plays a fundamental role in human physiology, being an integral component of hundreds of enzymes and transcription factors. The discovery that zinc atoms may compete with copper for their absorption in the gastrointestinal tract let to introduce zinc in the therapy of Wilson’s disease, a congenital disorder of copper metabolism characterized by a systemic copper storage. Nowadays, zinc salts are considered one of the best therapeutic approach in patients affected by Wilson’s disease. On the basis of the similarities, at histological level, between Wilson’s disease and non-alcoholic liver disease, zinc has been successfully introduced in the therapy of non-alcoholic liver disease, with positive effects both on insulin resistance and oxidative stress. Recently, zinc deficiency has been indicated as a possible factor responsible for the susceptibility of elderly patients to undergo infection by SARS-CoV-2, the coronavirus responsible for the COVID-19 pandemic. Here, we present the data correlating zinc deficiency with the insurgence and progression of Covid-19 with low zinc levels associated with severe disease states. Finally, the relevance of zinc supplementation in aged people at risk for SARS-CoV-2 is underlined, with the aim that the zinc-based drug, classically used in the treatment of copper overload, might be recorded as one of the tools reducing the mortality of COVID-19, particularly in elderly people.

Early cell transplantation in LEC rats modeling Wilson's disease eliminates hepatic copper with reversal of liver disease

2002 ◽  
Vol 122 (2) ◽  
pp. 438-447 ◽  
Author(s):  
Harmeet Malhi ◽  
Adil N. Irani ◽  
Irene Volenberg ◽  
Michael L. Schilsky ◽  
Sanjeev Gupta
Keyword(s):  
Liver Disease ◽  
Cell Transplantation ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Hepatic Copper ◽  
Lec Rats

DIAGNOSIS OF WILSON'S DISEASE IN CHILDREN WITH LIVER DISEASE

The Lancet ◽  
1969 ◽  
Vol 293 (7584) ◽  
pp. 22-25 ◽  
Author(s):  
D.M. Danks ◽  
B.J. Stevens
Keyword(s):  
Liver Disease ◽  
Wilson’S Disease ◽  
Wilson's Disease

scholarly journals Unexplained Findings of Kayser-Fleischer-Like Rings in a Patient with Cryptogenic Cirrhosis

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Mahreema Jawairia ◽  
Miral Subhani ◽  
Ghulam Siddiqui ◽  
Apsara Prasad ◽  
Ghulamullah Shahzad ◽  
...  
Keyword(s):  
Liver Disease ◽  
Wilson’S Disease ◽  
The United States ◽  
Wilson's Disease ◽  
Biliary Cirrhosis ◽  
Excessive Alcohol Consumption ◽  
Common Cause ◽  
Nonalcoholic Fatty Liver ◽  
Cryptogenic Cirrhosis ◽  
Alpha 1 Antitrypsin Deficiency

Cryptogenic cirrhosis (CC) is defined as cirrhosis occurring in an individual without an identifiable cause of liver disease, such as excessive alcohol consumption, viral hepatitis infection, hemochromatosis, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis, chronic intake of medications that could induce cirrhosis, alpha-1-antitrypsin deficiency, Wilson’s disease, or any other rare cause of cirrhosis according to the clinical context. Cryptogenic cirrhosis is a common cause of liver-related morbidity and mortality in the United States. Nonalcoholic fatty liver disease is now recognized as the most common cause of cryptogenic cirrhosis. A biopsy specimen is also important for detecting histological advanced disease, which may be clinically silent and undetected by liver-related tests or diagnostic imaging. We are presenting an unusual case of a patient with cryptogenic cirrhosis found to have Kayser-Fleischer-like rings without evidence of Wilson’s disease.

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