É uma doença metabólica genética que acontece por causa de um problema no controle do cobre dentro das células.
Introdução
O que você precisa saber de cara
É uma doença metabólica genética que acontece por causa de um problema no controle do cobre dentro das células.
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 120 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 281 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição.
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules
Golgi apparatusCytoplasmic vesicle membraneMembrane, clathrin-coated pit
MEDNIK syndrome
A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to
Golgi apparatus, trans-Golgi network membraneCell membraneMelanosome membraneEarly endosome membraneCell projection, axonCell projection, dendritePostsynaptic densityCytoplasm, cytosolEndoplasmic reticulum
Menkes disease
An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2); together with SCO1, facilitates the incorporation of copper into the Cu(A) site of MT-CO2/COX2 (PubMed:15229189, PubMed:17189203, PubMed:19336478, PubMed:35750769). Could also act as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478)
Mitochondrion inner membrane
Mitochondrial complex IV deficiency, nuclear type 2
An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules
Golgi apparatusCytoplasmic vesicle, clathrin-coated vesicle membrane
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.
Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload
Golgi apparatus, trans-Golgi network membraneLate endosomeGolgi apparatus membraneCytoplasmMitochondrion
Wilson disease
An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
Medicamentos e terapias
Mecanismo: Cyclooxygenase-2 inhibitor
Mecanismo: Norepinephrine transporter inhibitor
Mecanismo: Norepinephrine transporter inhibitor
Variantes genéticas (ClinVar)
953 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração do metabolismo do cobre
Centros de Referência SUS
21 centros habilitados pelo SUS para Alteração do metabolismo do cobre
Centros para Alteração do metabolismo do cobre
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading to delayed or missed diagnoses. In this study, we evaluate the utility of a custom next-generation sequencing (NGS) panel targeting the full-length ATP7B gene and 10 additional copper metabolism-related genes in patients with clinically suspected WD. We conducted a prospective cohort study of 144 individuals at our neurogenetic center. Variants identified by NGS were filtered and annotated with in silico tools and classified according to American College of Medical Genetics and Genomics guidelines. Confirmatory Sanger sequencing, multiplex ligation-dependent probe amplification, and reverse transcription PCR assays were performed as needed. Genetic confirmation of WD was achieved in 129 of 144 patients (90%), including 80 typical (Leipzig score ≥4) and 49 atypical (score <4) cases. Ten novel ATP7B variants, including deep intronic, noncanonical splice, and copy number variants, were identified using this panel. Among 15 genetically unresolved cases, 6 harbored variants in other copper metabolism-related genes but no pathogenic ATP7B variants. Notably, 1 patient with a Leipzig score of 4 had been clinically diagnosed with WD for years but was reclassified as spinocerebellar ataxia type 12 after panel testing revealed only a heterozygous CP variant and a CAG repeat expansion in PPP2R2B. Our comprehensive multigene NGS panel enables precise diagnosis of WD by detecting both classical and unconventional pathogenic variants, as well as distinguishing phenocopies. This improved diagnostic accuracy underscores the value of early genetic testing to guide timely intervention, especially in atypical or early-stage cases.
Preclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease.
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. In this study, a novel gene therapy for WD was developed, and its efficacy and safety were evaluated in relevant animal models. Codon-optimized full-length or truncated ATP7B (tATP7B) genes were assembled with liver-specific mini promoters to construct an adeno-associated virus serotype 8 vector (AAV8). The expression and activity of these vectors were evaluated in HepG2 cells. AAV8-tATP7B viral particles were produced using a triple-plasmid cotransfection system under good manufacturing practice conditions. Long-term efficacy was evaluated in Atp7b-/- mice at three doses (5×10¹¹, 5×10¹², and 1×10¹³ vg/kg). Single-dose toxicity was assessed over 13 weeks in Sprague-Dawley rats and cynomolgus macaques. In HepG2 cells, the ability of the truncated ATP7B to export copper was comparable to that of the full-length protein, but the expression efficiency was greater. Alkaline gel electrophoresis confirmed its better compatibility with AAV packaging limits while maintaining genomic integrity, supporting its selection for AAV8-tATP7B production. In a 24-week study in Atp7b-/- mice, AAV8-tATP7B restored copper homeostasis and liver function in a dose-dependent manner and significantly reversed existing liver injury. Toxicity studies in Sprague‒Dawley rats and cynomolgus monkeys revealed no systemic toxicity, whereas reversible liver changes were observed in cynomolgus monkeys at high doses; thus, 6×10¹³ vg/kg was established as the maximum tolerated dose. These results establish the efficacy and safety profile of AAV8-tATP7B and provide the rationale for its clinical translation in patients with WD.
Mitochondrial deficits and activation of autophagy in human iPSC-derived midbrain dopaminergic progenitors from patients with Wilson's disease.
Wilson's disease (WD) is a disorder of copper metabolism that can cause severe neurological manifestations, including parkinsonism. This suggests that nigrostriatal dopaminergic system dysfunction may contribute to neurological WD. However, pathological changes in the central nervous system associated with WD remain poorly understood due to limited patient samples and the absence of animal models with robust neurological phenotypes. In our previous research, we established an induced pluripotent stem cell (iPSC) line from a WD patient carrying the R778L mutation. Here, we successfully differentiated iPSCs from both WD patients and healthy controls into midbrain dopaminergic progenitor cells (WD-mDAPCs and HC-mDAPCs, respectively). WD-mDAPCs exhibited cell-type-specific mitochondrial vulnerability, indicating that mitochondrial dysfunction may play an important role in WD neuropathogenesis. Furthermore, an increased number of autophagosomes was detected in WD-mDAPCs. Thus, we have established a novel cellular model for investigating neural abnormalities in WD. Therapeutic strategies targeting mitochondrial protection and autophagy activation may alleviate copper-induced neurological impairment in WD.
Comprehensive urinary proteomics using DIA and PRM for low-abundance protein profiling of Wilson disease.
Wilson disease (WD) is an inherited disorder of copper metabolism with early diagnostic challenges. Urinary proteomics shows promise for identifying WD-related biomarkers, but current strategies neglect the detection of low-abundance proteins critical for preclinical diagnosis. Urine samples from 53 newly diagnosed WD patients and 47 matched controls were analyzed using an optimized proteomics strategy integrating data-independent acquisition (DIA) with parallel reaction monitoring (PRM). Functional enrichment analysis, hierarchical clustering and other multidimensional analyses were employed to delve into low-abundance protein biomarkers. Recursive feature elimination (RFE) and support vector machine (SVM) were applied to identify the candidate biomarkers, and the performance of the diagnostic model was measured by the receiver operating characteristic (ROC) curve. Furthermore, the potential biomarkers were validated by ELISA in an independent validation cohort. The optimized DIA-based untargeted proteomics identified 2263 urine proteins, including 447 differentially expressed proteins (68 upregulated and 379 downregulated). After LC-PRM-MS verification, 46 new candidate biomarkers for WD were identified and 11 were included in the final model. The SVM model performed the best in classifying WD and healthy control, and the areas under the ROC curve in the training set and the test set were 0.95 and 0.94 respectively. Four proteins were validated by ELISA in an independent cohort, with expression levels consistent with the proteomics data. The proposed DIA-PRM proteomics analysis detect more low-abundance urinary proteins, and a urinary protein biomarker panel with high accuracy for non-invasive diagnosis in WD patients was identified.
A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism requiring early diagnosis to prevent severe hepatic and neurological damage, particularly in children, where diagnostic challenges are pronounced. Serum ceruloplasmin (CPN) is a critical biochemical marker, yet its diagnostic accuracy and optimal cutoff value in pediatric populations need further evaluation in specific regional contexts. This study evaluates the diagnostic performance of serum CPN in diagnosing WD among children at Damascus University Children's Hospital and determines an optimal diagnostic cutoff value for this population. A bidirectional cross-sectional study was conducted from January 2019 to December 2022 at Damascus University Children's Hospital, including 80 children diagnosed with WD (case group) and 80 children with hepatic symptoms but without WD (control group), all under 13 years. Serum CPN was measured using immunoturbidimetry. Data on demographics, clinical presentations, Kayser-Fleischer rings, CPN levels, and 24-hour urinary copper were collected. Statistical analyses included t-tests, receiver operating characteristic analysis, and multiple linear regression (Statistical Package for Social Sciences). Ethical approval and informed consent were obtained. Mean age in the WD group was 119.15 ± 30.47 months (57.5% female). Serum CPN was significantly lower in WD (9.8 ± 3.2 mg/dL) versus controls (27.6 ± 10.4 mg/dL, P < .001). Receiver operating characteristic analysis showed high diagnostic accuracy (AUC = 0.967, 95% CI: 0.945-0.988), with an optimal CPN cutoff of 15 mg/dL (sensitivity 93.8%, specificity 85.0%). Regression identified age, female sex, neurological symptoms, Kayser-Fleischer rings, and urinary copper as predictors of lower CPN. Serum CPN is a highly accurate diagnostic marker for pediatric WD, with a 15 mg/dL cutoff optimizing sensitivity and specificity. Interpretation should consider age, sex, and clinical features.
Publicações recentes
A cross-sectional analysis of the quality and reliability of Wilson disease videos on Bilibili, Douyin, and Kuaishou.
A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
Preclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease.
📚 EuropePMC12 artigos no totalmostrando 196
A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
MedicineRelative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.
American journal of medical genetics. Part APrecision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
Neurology. GeneticsPreclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease.
Clinical and molecular hepatologyMitochondrial deficits and activation of autophagy in human iPSC-derived midbrain dopaminergic progenitors from patients with Wilson's disease.
Stem cell researchClinical and Demographic Profile of Wilson Disease in Young Adults: A Retrospective Study at a Tertiary Care Center in Peshawar, Pakistan.
Cureusd-Penicillamine-loaded MIL-100(Fe) for precise targeted copper chelation in Wilson's disease.
RSC advancesMitochondrial dysfunction in Wilson disease: a systematic review and meta-analysis across human and animal models.
Frontiers in molecular biosciencesComprehensive urinary proteomics using DIA and PRM for low-abundance protein profiling of Wilson disease.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesWilson Disease Hiding in Plain Sight: A Case Report of Psychosis and Catatonia Revealing Underlying Liver Dysfunction.
Reports (MDPI)Development of a gastrointestinal-restricted cellulose-based copper sequestrant: potential application in treating Wilson's disease.
International journal of biological macromoleculesRetropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease.
Frontiers in neurologyPostinfectious Manifestation of Wilson's Disease in COVID-19 Presenting as Writer's Cramp: A Case Report.
Acta neurologica TaiwanicaAltered Sleep Patterns in Wilson's Disease Including Shortened REM Latency.
Diagnostics (Basel, Switzerland)[Recommendations from the European Association for the Study of the Liver and the European Reference Network for Rare Liver Diseases Clinical Practice Guidelines for hepatolenticular degeneration].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyThe burden of Wilson's disease: Insights into clinical, psychological, and functional dimensions.
RehabilitacionHigh-Calorie Diet Accelerates the Liver Tissue Degeneration and Induces Subcutaneous White-to-Brown Fat Conversion in Mice with a Single-Allele Atp7b Mutation.
The Journal of nutritionWilson's Disease in Oman: A National Cohort Study of Clinical Spectrum, Diagnostic Delay, and Long-Term Outcomes.
Clinics and practiceClinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Gastro hep advancesOxidative Stress and Psychiatric Symptoms in Wilson's Disease.
International journal of molecular sciencesNeuroimaging correlates of genetics in patients with Wilson's disease.
Cerebral cortex (New York, N.Y. : 1991)Case Report: Child with Menkes syndrome complicated by bladder diverticula.
Frontiers in pediatricsHypocupraemia-related drug-refractory seizures in Wilson disease.
Practical neurologyRole and mechanisms of cuproptosis in the pathogenesis of Wilson's disease (Review).
International journal of molecular medicineAcute Deep Vein Thrombosis Presents as an Early Complication of Wilson Disease.
CureusCurrent Management of Neurological Wilson's Disease.
Tremor and other hyperkinetic movements (New York, N.Y.)PSYCHOLOGICAL FEATURES OF THE SUBJECTIVE PERCEPTION OF THE QUALITY OF LIFE OF PATIENTS WITH HEPATOCEREBRAL DYSTROPHY.
Georgian medical newsApplication of a Core Care Nursing Outcomes Classification System for Liver Transplantation Patients: A Retrospective Case Study.
Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and AssociatesIntrathecal Baclofen Therapy Improves Refractory Status Dystonicus in Neuro-hepatic Wilson's Disease: A Case Report.
NMC case report journalPractical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.
GE Portuguese journal of gastroenterologyProspective Study to Assess Long-Term Outcomes of Chelator-Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease.
JGH open : an open access journal of gastroenterology and hepatologyEASL-ERN Clinical Practice Guidelines on Wilson's disease.
Journal of hepatologyResearch Progress in Copper Homeostasis and Diseases.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae[Research progresses in gene therapy for hepatolenticular degeneration].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyTargeted and non-targeted proteomics to identify the urinary protein biomarkers for Wilson disease.
Clinica chimica acta; international journal of clinical chemistryPsychiatric Symptoms in Wilson's Disease-Consequence of ATP7B Gene Mutations or Just Coincidence?-Possible Causal Cascades and Molecular Pathways.
International journal of molecular sciencesAmantadine-induced psychosis in Wilson disease.
The National medical journal of India[Progress in drug therapy of Wilson's disease].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyUsefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.
International medical case reports journalEpidemiology of Wilson disease in Germany - real-world insights from a claims data study.
Orphanet journal of rare diseasesAdverse pregnancy outcomes and effect of treatment in Wilson disease during pregnancy: Systematic review and meta-analysis.
Liver international : official journal of the International Association for the Study of the LiverWilson's Disease-Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues.
International journal of molecular sciencesKidney complications of Wilson disease and its treatments: A case report and literature review.
Clinical nephrologyBrain Magnetic Resonance Imaging in Wilson's Disease-Significance and Practical Aspects-A Narrative Review.
Brain sciencesNeurological Deterioration in Wilson's Disease-Types, Etiology, Course, and Management.
Discovery medicineAn Effort to Identify Genetic Determinants in Siblings With Wilson Disease Manifesting Striking Clinical Heterogeneity: An Exome Profiling Study of Two Indian Families.
Pediatric neurologyKayser-Fleischer rings: The pathognomonic for Wilson's disease.
Clinical case reportsBilateral optic atrophy in Wilson disease: A case report and literature review.
Clinics and research in hepatology and gastroenterologyA case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature.
BMC neurologyUnfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.
Scientific reportsMetabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism.
Orphanet journal of rare diseasesMetallothionein: a game changer in histopathological diagnosis of Wilson disease.
HistopathologyWilson Disease: A Case Report of Psychosis Preceding Parkinsonism.
The American journal of case reportsComparison of Serum Zinc in Children of Wilson Disease and Non-Wilsonian Volunteers in Bangladesh.
Mymensingh medical journal : MMJA Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China.
Pediatric neurology"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.
Orphanet journal of rare diseasesMedical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers.
Orphanet journal of rare diseasesBlood Based Biomarkers of Central Nervous System Involvement in Wilson's Disease.
Diagnostics (Basel, Switzerland)Structures of the human Wilson disease copper transporter ATP7B.
Cell reportsWilson's Disease-Genetic Puzzles with Diagnostic Implications.
Diagnostics (Basel, Switzerland)Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.
Journal of movement disordersChallenges in Anesthesia in Wilson's Disease: A Systematic Review of the Existing Literature.
CureusConstruction of diagnostic prediction model for Wilson's disease.
Frontiers in surgeryWilson's disease: Food therapy out of trace elements.
Frontiers in cell and developmental biologyRetinal Degeneration in Patients with Wilson's Disease: An OCT Study in Asian Indian Population.
Annals of Indian Academy of NeurologyAn Update on the Future of Wilson Disease Management.
The primary care companion for CNS disordersDesign, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.
GenesPathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease.
The Journal of molecular diagnostics : JMDA Case of Megaspleen With Micrographism.
CureusHemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.
World journal of hepatology[Nuclear medicine diagnostics in Wilson's disease].
Der NervenarztThe Role of Zinc in the Treatment of Wilson's Disease.
International journal of molecular sciencesCopper deposition in Wilson's disease causes male fertility decline by impairing reproductive hormone release through inducing apoptosis and inhibiting ERK signal in hypothalamic-pituitary of mice.
Frontiers in endocrinologyPearls & Oy-sters: Challenges and Controversies in Wilson Disease.
NeurologyNewly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Human molecular geneticsHigh value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson's disease.
Molecular therapy. Methods & clinical developmentLiposome-encapsulated curcumin attenuates HMGB1-mediated hepatic inflammation and fibrosis in a murine model of Wilson's disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieRare co-occurrence of multiple sclerosis and Wilson's disease - case report.
BMC neurologyBiochemical diagnosis of Wilson's disease: an update.
Advances in laboratory medicineAlmost misdiagnosed Menkes disease: A case report.
HeliyonIdentification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.
Frontiers in geneticsInvestigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.
The lancet. Gastroenterology & hepatologyCopper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.
BMJ case reportsWilson's disease- management and long term outcomes.
Best practice & research. Clinical gastroenterologySleep disturbances in newly diagnosed treatment-naïve patients with Wilson's disease.
Acta neurologica BelgicaClinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Translational neurodegenerationLiver transplantation as a treatment for Wilson's disease with neurological presentation: a systematic literature review.
Acta neurologica BelgicaCatatonia: A rare presentation of Wilson's disease.
Industrial psychiatry journalCRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson's disease.
JHEP reports : innovation in hepatologyAcute liver failure with hemolytic anemia in children with Wilson's disease: Genotype-phenotype correlations?
World journal of hepatologyZinc as a Drug for Wilson's Disease, Non-Alcoholic Liver Disease and COVID-19-Related Liver Injury.
Molecules (Basel, Switzerland)Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.
Stem cell researchImmunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review.
BMC gastroenterologyMultimodal magnetic resonance imaging analysis in the characteristics of Wilson's disease: A case report and literature review.
Open life sciencesEstimating the clinical prevalence of Wilson's disease in the UK.
JHEP reports : innovation in hepatologyComparison of the Pharmacokinetic Profiles of Trientine Tetrahydrochloride and Trientine Dihydrochloride in Healthy Subjects.
European journal of drug metabolism and pharmacokineticsInfantile ATP7B-Related End-Stage Liver Disease: An Exceptional Wilson Disease Phenotype From Consecutive Generations.
JPGN reportsWilson's disease: update on pathogenesis, biomarkers and treatments.
Journal of neurology, neurosurgery, and psychiatryNeuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study.
Brain : a journal of neurologyNIR-II Photoacoustic Reporter for Biopsy-Free and Real-Time Assessment of Wilson's Disease.
Small (Weinheim an der Bergstrasse, Germany)Management of Acute Wilsonian Hepatitis with Severe Hemolysis: A Successful Combination of Chelation and MARS Dialysis.
Case reports in hepatologyThe Effect of Mental Health, Neurological Disease, and Liver Disease on Quality of Life in Patients With Wilson Disease.
Journal of the Academy of Consultation-Liaison PsychiatryNeuropathological findings in a 17-month-old boy with kinky hair due to Menkes disease.
Clinical neuropathologyInvestigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations.
Scientific reportsIron metabolism is disturbed and anti-copper treatment improves but does not normalize iron metabolism in Wilson's disease.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicineReproductive function of long-term treated patients with hepatic onset of Wilson's disease: a prospective study.
Reproductive biomedicine onlineNeurological features and outcomes of Wilson's disease: a single-center experience.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHypopituitarism in Wilson's disease resolved after copper-chelating therapy.
Endocrinology, diabetes & metabolism case reportsEvoked Potentials in Patients With Wilson Disease.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyEffect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical manifestation: original data and literature review.
The International journal of neuroscienceWilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
Journal of gastroenterologyWhole brain volume and cortical thickness abnormalities in Wilson's disease: a clinical correlation study.
Brain imaging and behaviorNeuropsychiatric Atypical Manifestation in Wilson's Disease: A Case Report and Literature Review.
Cureus[Evaluating the efficacy of diet therapy with protein component modification at Wilson disease].
Voprosy pitaniiaWilson's Disease: Diagnosis of Wilson's Disease in Ethiopian Young Sisters.
Case reports in medicineCopper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson's Disease.
Current medicinal chemistryWilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Medicine[Acute hemolysis crisis revealed a Wilson disease].
Annales de biologie cliniqueUnusual neuromuscular presentation of a Wilson's disease patient with one-stage surgical correction treatment: A case report.
Journal of orthopaedic surgery (Hong Kong)Low function of natural killer cells in treated classic Menkes disease.
The Turkish journal of pediatricsEstimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
Molecular genetics and metabolism reportsNeck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
American journal of medical genetics. Part AATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Human geneticsWilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers.
European journal of gastroenterology & hepatologyThe co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Molecular genetics & genomic medicineGeneration of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Stem cell researchEffect of Liver Transplant on Neurologic Manifestations and Brain Magnetic Resonance Imaging Findings in Wilson Disease.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationSleep disorders in Wilson disease: a systematic review and meta-analysis.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineWilson disease in children and adolescents.
Archives of disease in childhood[Liver transplantation in Wilson's disease patients, 1996-2017].
Orvosi hetilapOsseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.
Urology[The new aspects of clinical nutrition at Wilson disease: actuality and perspectives].
Voprosy pitaniiaLong-Term Correction of Copper Metabolism in Wilson's Disease Mice with AAV8 Vector Delivering Truncated ATP7B.
Human gene therapyCharacterization of Fibrinogen as a Key Modulator in Patients with Wilson's Diseases with Functional Proteomic Tools.
International journal of molecular sciencesPompholyx-Like Eruptions Induced by Penicillamine in a Patient with Wilson's Disease.
Indian journal of dermatologyWilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome.
Pediatric gastroenterology, hepatology & nutritionComparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies.
Liver international : official journal of the International Association for the Study of the LiverBiochemical Markers for the Diagnosis and Monitoring of Wilson Disease.
The Clinical biochemist. ReviewsLong surviving classical Menkes disease treated with weekly intravenous copper therapy.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Single Pass Albumin Dialysis and Plasma Exchange for Copper Toxicity in Acute Wilson Disease.
Case reports in nephrology and dialysisA cellular model for Wilson's disease using patient-derived induced pluripotent stem cells revealed aberrant β-catenin pathway during osteogenesis.
Biochemical and biophysical research communications[Present status of diagnosis and treatment of hepatolenticular degeneration].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyTargeting Higher Levels of Tau Protein in Ukrainian Patients with Wilson's Disease.
Neurology and therapyATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Pediatrics international : official journal of the Japan Pediatric SocietyMicrostructure changes in whiter matter relate to cognitive impairment in Wilson's disease.
Bioscience reportsContribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
Parkinsonism & related disordersHepatic copper accumulation in a young cat with familial variations in the ATP7B gene.
Journal of veterinary internal medicineA case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient.
Medicine[Wilson's disease or hepatolenticular degeneration].
Therapeutische Umschau. Revue therapeutiqueActivation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis.
GastroenterologyRecovery of severe acute liver failure without transplantation in patients with Wilson disease.
Pediatric transplantationThe global prevalence of Wilson disease from next-generation sequencing data.
Genetics in medicine : official journal of the American College of Medical GeneticsCerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
Molecular therapy. Methods & clinical developmentComplications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationAnimal models of Wilson disease.
Journal of neurochemistryA glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.
Metallomics : integrated biometal scienceWilson disease: more than meets the eye.
Postgraduate medical journalGenetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Journal of geneticsPregnancy in Wilson's disease: Management and outcome.
Hepatology (Baltimore, Md.)Wilson's disease: Prospective developments towards new therapies.
World journal of gastroenterologyStudy on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson's Disease with Diffusion Tensor Imaging.
Neural plasticityComparative assessment of clinical rating scales in Wilson's disease.
BMC neurologyGenetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Molecular genetics & genomic medicinePathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature.
Journal of bone metabolismNeuroimaging Changes in Menkes Disease, Part 1.
AJNR. American journal of neuroradiologyNeuroimaging Changes in Menkes Disease, Part 2.
AJNR. American journal of neuroradiologyWilson disease - currently used anticopper therapy.
Handbook of clinical neurologyOther organ involvement and clinical aspects of Wilson disease.
Handbook of clinical neurologyWilson's Disease in China.
Neuroscience bulletinLinkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease.
Clinical laboratoryFour-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
MedicineRecurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.
MedicineMultiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.
Metallomics : integrated biometal sciencePsychiatric disturbances as a first clinical symptom of Wilson's disease - case report.
Psychiatria polskaNeurological features and management of Wilson disease in children: an evaluation of 12 cases.
Turk pediatri arsiviSpectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
TheranosticsSubclinical neurological involvement does not develop if Wilson's disease is treated early.
Parkinsonism & related disordersClinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.
Gastroenterology research and practiceAcute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors.
Journal of clinical and translational hepatology[Wilson disease: liver form].
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del PeruATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Genetic testing and molecular biomarkersCurrent Drug Managements of Wilson's Disease: From West to East.
Current neuropharmacologyWilson disease: Health-related quality of life and risk for depression.
Clinics and research in hepatology and gastroenterologyInfluence of Ogg1 repair on the genetic stability of ccc2 mutant of Saccharomyces cerevisiae chemically challenged with 4-nitroquinoline-1-oxide (4-NQO).
MutagenesisWilson disease with hepatic presentation in an eight-month-old boy.
World journal of gastroenterologyProteomic investigation of whole saliva in Wilson's disease.
Journal of proteomicsNovel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
World journal of pediatrics : WJPNeuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.
Human molecular geneticsCoagulation Parameters in Wilson Disease.
Journal of gastrointestinal and liver diseases : JGLDHemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
International journal of clinical and experimental medicineManagement of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature.
UrologyDefective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
Molecular and cellular neurosciencesHypersomnolence in Wilson Disease.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineMultiple sclerosis in two patients with coexisting Wilson's disease.
Multiple sclerosis and related disorders1H NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease.
PloS oneGenetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.
- Preclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease.
- Mitochondrial deficits and activation of autophagy in human iPSC-derived midbrain dopaminergic progenitors from patients with Wilson's disease.
- Comprehensive urinary proteomics using DIA and PRM for low-abundance protein profiling of Wilson disease.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences· 2026· PMID 41456382mais citado
- A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
- A cross-sectional analysis of the quality and reliability of Wilson disease videos on Bilibili, Douyin, and Kuaishou.
- Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309839(Orphanet)
- MONDO:0017762(MONDO)
- GARD:21354(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q19001238(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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