☆ 4.7 Review

The Role of Zinc in the Treatment of Wilson's Disease

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Article Gastroenterology & Hepatology

Multicentre, retrospective study to assess long-term outcomes of chelator based treatment with trientine in Wilson disease patients withdrawn from therapy with D-penicillamine

Karl Heinz Weiss et al.

Summary: This study systematically evaluated the long-term efficacy and tolerability of TETA-2HCl in Wilson disease patients. The results showed that TETA-2HCl was well-tolerated and effective in improving hepatic and neurological symptoms in most patients, with no cases of acute hepatic failure or liver transplant necessity.

EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2022)

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Article Multidisciplinary Sciences

Copper induces cell death by targeting lipoylated TCA cycle proteins

Peter Tsvetkov et al.

Summary: Copper is an essential cofactor for all organisms, but excessive copper can lead to cell death. We found that copper-dependent cell death mechanism is different from known mechanisms, and it is related to mitochondrial respiration. Copper directly binds to lipoylated components of the tricarboxylic acid cycle, causing protein aggregation and loss of iron-sulfur cluster proteins, ultimately leading to cell death.

SCIENCE (2022)

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Review Pharmacology & Pharmacy

Comparison of the Effectiveness and Safety of d-Penicillamine and Zinc Salt Treatment for Symptomatic Wilson Disease: A Systematic Review and Meta-Analysis

Shan Tang et al.

Summary: This study evaluated the efficacy and safety of common treatment regimens in patients with Wilson disease. The results showed that symptomatic patients treated with d-penicillamine had a higher incidence of adverse effects and neurological deterioration compared to those treated with zinc salts. The therapeutic effectiveness of these two regimens did not appear to be significantly different.

FRONTIERS IN PHARMACOLOGY (2022)

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Review Gastroenterology & Hepatology

Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver

Samuel Shribman et al.

Summary: This Review provides a practical guide to the diagnosis of Wilson's disease, including recommendations on indications for testing, how to interpret results, and when additional investigations are required. It also covers treatment initiation and the principles behind long-term management.

LANCET GASTROENTEROLOGY & HEPATOLOGY (2022)

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Article Clinical Neurology

Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Zi-Wei Zheng et al.

Summary: This study reported a case of a patient with Wilson's disease (WD) who presented with acute-onset visual impairment. By reviewing previous cases, it was found that WD has complex clinical manifestations. Although the etiology behind visual impairment remains uncertain, the possibility of WD should be considered through neuropsychiatric and hepatic symptoms, corneal K-F rings, decreased serum ceruloplasmin, and low likelihood or exclusion of other causes. Clinicians need to recognize this rare manifestation and provide appropriate treatment to avoid misdiagnosis and overtreatment.

FRONTIERS IN NEUROLOGY (2022)

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Article Clinical Neurology

Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study

Samuel Shribman et al.

Summary: Wilson's disease is a genetic disorder that affects copper metabolism and can lead to neurological and hepatic symptoms. This study used neuroimaging techniques to analyze brain abnormalities in patients with Wilson's disease and found differences between those with neurological and hepatic presentations. The severity of neurological deficits was correlated with reductions in grey matter volume in certain brain regions. Additionally, the study identified associations between neurological severity and changes in white matter integrity and iron deposition. These findings provide insights into the disease mechanisms and suggest potential biomarkers for prognosis and monitoring.

BRAIN (2022)

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Article Gastroenterology & Hepatology

Wilson's Disease: An Analysis of Health Care Use and Cost Burden of Commercially Insured Adults in the United States

Vinod K. Rustgi et al.

Summary: Wilson's disease is associated with significant health care cost and use burdens, with higher inpatient admissions, outpatient visits, and pharmaceutical claims driving the increase in health care costs. In a retrospective case-control analysis, WD cases had more claims per patient and increased health care costs compared to chronic liver disease controls. Adjusted multivariable regression models were used to compare health care burdens between cases and controls.

HEPATOLOGY COMMUNICATIONS (2022)

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Article Clinical Neurology

Plasma Neurofilament Light as a Biomarker of Neurological Involvement in Wilson's Disease

Samuel Shribman et al.

Summary: Neurofilament light (NfL) concentrations were higher in neurological presentations of Wilson's disease, making it a potential biomarker for guiding chelation therapy and clinical trials.

MOVEMENT DISORDERS (2021)

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Article Clinical Neurology

Neurological features and outcomes of Wilson's disease: a single-center experience

Bedia Samanci et al.

Summary: Wilson's disease is a genetic disorder of copper metabolism that can present with neurological symptoms. A study in Turkey investigated the characteristics and prognosis of 53 WD patients with neurological manifestations, finding that most patients had good outcomes and stable disease with appropriate treatment. Neurological symptoms were the main presentation in the majority of patients, and early diagnosis and treatment compliance are important for preventing irreversible damage.

NEUROLOGICAL SCIENCES (2021)

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Article Pediatrics

Prevalence of Wilson disease based on genome databases in Japan

Hiroshi Yamaguchi et al.

Summary: This study is the first to report the carrier frequency of ATP7B variants and the prevalence of WD in Japan using multiple databases. The calculated prevalence of WD was comparatively higher than that of previous reports, indicating previous underdiagnosis or the existence of less severe phenotypes.

PEDIATRICS INTERNATIONAL (2021)

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Article Gastroenterology & Hepatology

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

Christopher J. Collins et al.

Summary: Quantification of ATP7B peptide effectively identified Wilson disease patients in 92.1% of presented cases, reducing ambiguities from ceruloplasmin and genetic analysis. It provides clarity to patients with ambiguous genetic results, aiding significantly in noninvasive diagnosis. A proposed diagnostic score and algorithm incorporating ATP7B peptide concentrations can be a rapid supplement to current Leipzig scoring systems.

GASTROENTEROLOGY (2021)

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Article Pharmacology & Pharmacy

Safety profile of D-penicillamine: a comprehensive pharmacovigilance analysis by FDA adverse event reporting system

Vijay Kumar et al.

Summary: The study identified and analyzed adverse events associated with D-penicillamine, with findings showing a range of adverse reactions such as muscle spasm, drug hypersensitivity, blood cell abnormalities, joint swelling, renal impairment, swallowing difficulties, exacerbation of condition, congestive cardiac failure, peripheral edema, tremors, fever, and gait disturbances. Patients taking D-penicillamine require close monitoring due to the various potential adverse effects on renal, immune, liver, cardiac, and neurological functions.

EXPERT OPINION ON DRUG SAFETY (2021)

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Article Gastroenterology & Hepatology

Designing Clinical Trials in Wilson's Disease

Peter Ott et al.

Summary: Improving the design and standardization of clinical trials for Wilson's disease is essential for better treatment comparisons and reducing the number of patients needed per trial in the future.

HEPATOLOGY (2021)

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Article Endocrinology & Metabolism

Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease

Elodie Jacquelet et al.

Summary: In patients with Wilson's disease, adherence is correlated with factors such as age at diagnosis, age at inclusion in the study, form of the disease, duration of treatment, etc. Patients with low adherence have higher levels of exchangeable copper and a lower average age. Patients with a neurological form of the disease are more likely to have high adherence, while asymptomatic patients are more likely to have low adherence.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Review Clinical Neurology

Wilson's disease: update on pathogenesis, biomarkers and treatments

Samuel Shribman et al.

Summary: Wilson's disease is a disorder of copper metabolism caused by mutations in ATP7B, affecting neurological, psychiatric, ophthalmological, and hepatic manifestations. Despite understanding genetic and molecular mechanisms, reasons for the development of neurological or psychiatric features in some patients remain unclear. Pathological processes of copper accumulation leading to neurodegeneration involve mitochondrial dysfunction and brain iron metabolism.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)

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Article Gastroenterology & Hepatology

The Prevalence of Wilson's Disease: An Update

Thomas Damgaard Sandahl et al.

HEPATOLOGY (2020)

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Article Genetics & Heredity

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

Daniel F. Wallace et al.

HUMAN GENETICS (2020)

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Article Genetics & Heredity

The global prevalence of Wilson disease from next-generation sequencing data

Jiali Gao et al.

GENETICS IN MEDICINE (2019)

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Article Gastroenterology & Hepatology

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease

Peter Ferenci et al.

HEPATOLOGY (2019)

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Article Endocrinology & Metabolism

Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment

Jan Pfeiffenberger et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Article Environmental Sciences

Copper(II) generates ROS and RNS, impairs antioxidant system and damages membrane and DNA in human blood cells

Nazim Husain et al.

ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH (2019)

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Editorial Material Gastroenterology & Hepatology

Wilson's disease: Fatal when overlooked, curable when diagnosed

Peter Ferenci et al.

JOURNAL OF HEPATOLOGY (2019)

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Review Gastroenterology & Hepatology

Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies

Christian Appenzeller-Herzog et al.

LIVER INTERNATIONAL (2019)

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Review Oncology

Clinical presentations of Wilson disease

Samuel Shribman et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Review Oncology

Current anti-copper therapies in management of Wilson disease

Isabelle Mohr et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Review Oncology

New tools for Wilson's disease diagnosis: exchangeable copper fraction

France Wohnant et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Article Clinical Neurology

Persistence with treatment for Wilson disease: a retrospective study

Wojciech Maselbas et al.

BMC NEUROLOGY (2019)

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Review Clinical Neurology

Sleep Disorders in Wilson's Disease

Valerie Cochen De Cock et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2019)

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Review Gastroenterology & Hepatology

Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India

Aabha Nagral et al.

JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY (2019)

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Review Medicine, General & Internal

Biomarkers for diagnosis of Wilson's disease

Aidan Ryan et al.

COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2019)

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Article Gastroenterology & Hepatology

Zinc Maintenance Therapy for Wilson Disease: A Comparison Between Zinc Acetate and Alternative Zinc Preparations

Michelle A. Camarata et al.

HEPATOLOGY COMMUNICATIONS (2019)

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Article Gastroenterology & Hepatology

Zinc monotherapy for young children with presymptomatic Wilson disease: A multicenter study in Japan

Keisuke Eda et al.

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2018)

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Article Pharmacology & Pharmacy

WTX101-an investigational drug for the treatment of Wilson disease

Karl Heinz Weiss et al.

EXPERT OPINION ON INVESTIGATIONAL DRUGS (2018)

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Review Pharmacology & Pharmacy

Copper and Zinc Dysregulation in Alzheimer's Disease

Stefano L. Sensi et al.

TRENDS IN PHARMACOLOGICAL SCIENCES (2018)

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Article Clinical Neurology

Exchangeable copper: a reflection of the neurological severity in Wilson's disease

A. Poujois et al.

EUROPEAN JOURNAL OF NEUROLOGY (2017)

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Review Gastroenterology & Hepatology

Insights into the management of Wilson's disease

Mohmadshakil Kathawala et al.

THERAPEUTIC ADVANCES IN GASTROENTEROLOGY (2017)

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Article Gastroenterology & Hepatology

Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open-label, multicentre, phase 2 study

Karl Heinz Weiss et al.

LANCET GASTROENTEROLOGY & HEPATOLOGY (2017)

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Article Endocrinology & Metabolism

Concomitant immune-related events in Wilson disease: implications for monitoring chelator therapy

Jessica Seessle et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2016)

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Review Biochemistry & Molecular Biology

The emerging role of lysosomes in copper homeostasis

Elena V. Polishchuk et al.

METALLOMICS (2016)

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Editorial Material Gastroenterology & Hepatology

Costly Choices for Treating Wilson's Disease

Michael L. Schilsky et al.

HEPATOLOGY (2015)

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Article Clinical Neurology

Early neurological worsening in patients with Wilson's disease

Tomasz Litwin et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)

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Review Biochemistry & Molecular Biology

Copper at synapse: Release, binding and modulation of neurotransmission

Nadia D'Ambrosi et al.

NEUROCHEMISTRY INTERNATIONAL (2015)

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Article Gastroenterology & Hepatology

EASL Clinical Practice Guidelines: Wilson’s disease

JOURNAL OF HEPATOLOGY (2015)

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Article Multidisciplinary Sciences

Future Economics of Liver Transplantation: A 20-Year Cost Modeling Forecast and the Prospect of Bioengineering Autologous Liver Grafts

Dany Habka et al.

PLOS ONE (2015)

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Article Food Science & Technology

Scientific Opinion on Dietary Reference Values for copper

Jean Louis Bresson et al.

EFSA JOURNAL (2015)

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Article Clinical Neurology

D- penicillamine versus zinc sulfate as first- line therapy for Wilson's disease

A. Czlonkowska et al.

EUROPEAN JOURNAL OF NEUROLOGY (2014)

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Article Clinical Neurology

Worsening of Wilson Disease following Penicillamine Therapy

Jayantee Kalita et al.

EUROPEAN NEUROLOGY (2014)

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Article Multidisciplinary Sciences

Copper is an endogenous modulator of neural circuit spontaneous activity

Sheel C. Dodani et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

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Editorial Material Pharmacology & Pharmacy

Treatment of Wilson's disease: our patients deserve better

George J. Brewer

EXPERT OPINION ON ORPHAN DRUGS (2014)

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Article Gastroenterology & Hepatology

Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease

Karl Heinz Weiss et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2013)

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Article Environmental Sciences

Copper ultrastructural localization, subcellular distribution, and phytotoxicity in Hydrilla verticillata (L.f.) Royle

Qinsong Xu et al.

ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH (2013)

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Article Clinical Neurology

Brain metal accumulation in Wilson's disease

T. Litwin et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2013)

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Article Immunology

Anti-MuSK- and anti-AChR-positive myasthenia gravis induced by d-penicillamine

Konstantinos Poulas et al.

JOURNAL OF NEUROIMMUNOLOGY (2012)

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Article Medicine, General & Internal

Wilson's disease: an analysis of 28 Brazilian children

Rodolpho Truffa Kleine et al.

CLINICS (2012)

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Editorial Material Gastroenterology & Hepatology

Zinc Toxicity: From No, Never to Hardly Ever

Eve A. Roberts

GASTROENTEROLOGY (2011)

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Article Gastroenterology & Hepatology

Zinc Monotherapy Is Not as Effective as Chelating Agents in Treatment of Wilson Disease

Karl Heinz Weiss et al.

GASTROENTEROLOGY (2011)

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Article Gastroenterology & Hepatology

Zinc Monotherapy From Time of Diagnosis for Young Pediatric Patients With Presymptomatic Wilson Disease

Tatsuki Mizuochi et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2011)

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Article Medicine, General & Internal

The pattern of urinary copper excretion and its response to treatment in patients with Wilson's disease

J. M. Walshe

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2011)

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Article Dermatology

Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease

Se Young Na et al.

ANNALS OF DERMATOLOGY (2010)

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Article Gastroenterology & Hepatology

Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine

Klaartje F. Lowette et al.

EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2010)

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Article Biochemical Research Methods

Determination of ultrafiltrable and exchangeable copper in plasma: stability and reference values in healthy subjects

Souleiman El Balkhi et al.

ANALYTICAL AND BIOANALYTICAL CHEMISTRY (2009)

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Article Clinical Neurology

Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

A. Compston

BRAIN (2009)

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Article Gastroenterology & Hepatology

Long-Term Exclusive Zinc Monotherapy in Symptomatic Wilson Disease: Experience in 17 Patients

Francisca H. H. Linn et al.

HEPATOLOGY (2009)

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Article Gastroenterology & Hepatology

Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease

Uta Merle et al.

JOURNAL OF HEPATOLOGY (2009)

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Article Clinical Neurology

A Novel Global Assessment Scale for Wilson's Disease (GAS for WD)

Annu Aggarwal et al.

MOVEMENT DISORDERS (2009)

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Article Biochemistry & Molecular Biology

Zinc and tetrathiomolybdate for the treatment of Wilson's disease and the potential efficacy of anticopper therapy in a wide variety of diseases

George J. Brewer

METALLOMICS (2009)

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Article Medical Laboratory Technology

Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine

George J. Brewer et al.

TRANSLATIONAL RESEARCH (2009)

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Review Pharmacology & Pharmacy

Alzheimer's disease, metal ions and metal homeostatic therapy

Paolo Zatta et al.

TRENDS IN PHARMACOLOGICAL SCIENCES (2009)

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Review Gastroenterology & Hepatology

Diagnosis and treatment of Wilson disease: An update

Eve A. Roberts et al.

HEPATOLOGY (2008)

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Article Clinical Neurology

Evaluation of the unified Wilson's disease rating scale (UWDRS) in German patients with treated Wilson's disease

Barbara Leinweber et al.

MOVEMENT DISORDERS (2008)

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Article Gastroenterology & Hepatology

Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study

U. Merle et al.

GUT (2007)

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Meeting Abstract Clinical Neurology

Unified Wilson's Disease Rating Scale (UWDRS) - a proposal for the neurological scoring of Wilson's disease patients

A. Czlonkowska et al.

PARKINSONISM & RELATED DISORDERS (2007)

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Article Gastroenterology & Hepatology

Diagnosis and management of Wilson's disease -: Results of a single center experience

Valentina Medici et al.

JOURNAL OF CLINICAL GASTROENTEROLOGY (2006)

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Letter Clinical Neurology

Adverse reaction after tetrathiomolybdate treatment for Wilson's disease:: A case report

Valentina Medici et al.

MOVEMENT DISORDERS (2006)

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Article Gastroenterology & Hepatology

Resolution of decompensated cirrhosis from Wilson's disease with zinc monotherapy: A potential therapeutic option?

Vanessa D. Lee et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2006)

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Review Clinical Neurology

Paradigm shift in treatment of Wilson's disease: Zinc therapy now treatment of choice

TU Hoogenraad

BRAIN & DEVELOPMENT (2006)

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Article Clinical Neurology

Treatment of Wilson disease with ammonium tetrathiomolybdate - IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease

GJ Brewer et al.

ARCHIVES OF NEUROLOGY (2006)

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Review Clinical Neurology

History of Wilson's disease: 1912 to 2000

JA Walshe

MOVEMENT DISORDERS (2006)

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Article Gastroenterology & Hepatology

Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease

P Ferenci et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2005)

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Article Medical Laboratory Technology

Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study

M Marcellini et al.

JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2005)

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Review Biotechnology & Applied Microbiology

Neurodegenerative diseases and oxidative stress

KJ Barnham et al.

NATURE REVIEWS DRUG DISCOVERY (2004)

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Article Medical Laboratory Technology

Treatment of Wilson's disease with zinc. XVIII. Initial treatment of the hepatic decompensation presentation with trientine and zinc

FK Askari et al.

JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2003)

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Article Gastroenterology & Hepatology

Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine

F Durand et al.

GUT (2001)

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Article Medical Laboratory Technology

Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years

GJ Brewer et al.

JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2001)

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Article Gastroenterology & Hepatology

Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy

GJ Brewer et al.

HEPATOLOGY (2000)

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