{"id":111553,"date":"2025-06-16T11:02:02","date_gmt":"2025-06-16T02:02:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/"},"modified":"2025-08-22T09:54:16","modified_gmt":"2025-08-22T00:54:16","slug":"wilson-disease-symptoms-diagnosis-treatment","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en","title":{"rendered":"Wilson Disease (ATP7B)"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Overview\" >Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Genetic_Region_ATP7B\" >Genetic Region: ATP7B<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Disorder_Overview\" >Disorder Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Epidemiology\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Etiology\" >Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Symptoms\" >Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Testing_Diagnosis\" >Testing &amp; Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Treatment_Management\" >Treatment &amp; Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#Helpful_Terms\" >Helpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#References\" >References<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=en\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"Overview\"><\/span>Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\nWilson disease is a rare genetic disorder that prevents the body from properly processing copper, a metal essential for various bodily functions. When this happens, copper accumulates in organs such as the liver and brain, leading to various symptoms. With early detection and ongoing treatment, individuals can lead a healthy life. This page provides a clear explanation of the causes, symptoms, tests, and treatment options for Wilson disease, aiming to assist both patients and their families in diagnosis and management.\n\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Region_ATP7B\"><\/span>Genetic Region: ATP7B<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ATP7B<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/ATP7B-hgtIdeo_genome_asia_1f402_f6af10-1024x26.png\" alt=\"ATP7B\" class=\"wp-image-101377\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ATP7B<\/p>\n\n\n\n<p>Wilson disease is caused by mutations in the ATP7B gene, located on the long arm of chromosome 13 (q14.3). This gene encodes an enzyme called copper-transporting ATPase, which plays a key role in copper metabolism. The enzyme&#8217;s function is to transport copper into and out of cells, and help eliminate excess copper via bile.<\/p>\n\n\n\n<p>The ATP7B protein has the following structure:<\/p>\n\n\n\n<p>8 transmembrane domains for copper transport across cell membranes<\/p>\n\n\n\n<p>3 intracellular domains that bind and hydrolyze ATP<\/p>\n\n\n\n<p>6 metal-binding domains (MBDs) for copper binding<\/p>\n\n\n\n<p>C-terminal regulatory domain<\/p>\n\n\n\n<p>Mutations in this gene impair copper excretion, causing copper to build up to toxic levels in the liver, brain, kidneys, and eyes.\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Disorder_Overview\"><\/span>Disorder Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Wilson disease, also known as hepatolenticular degeneration, is a genetic disorder of copper metabolism. Normally, copper is utilized in various enzymes, but any excess copper is toxic. Healthy individuals process and excrete excess copper through bile. In Wilson disease, this system fails, causing copper to accumulate in the liver, brain, eyes, and kidneys.<\/p>\n\n\n\n<p>Symptoms may not appear in infants, but they usually develop between the ages of 5 and 35, although onset can occur at any age. Initially, the disease may present as liver dysfunction, but neurological or psychiatric symptoms may also be the first signs.<\/p>\n\n\n\n<p>A distinctive sign of Wilson disease is the Kayser-Fleischer ring, a green-brown ring around the cornea of the eye, which is a key diagnostic clue.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidemiology\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Wilson disease is rare, with a global incidence of approximately 1 in 30,000 to 50,000 people. However, in specific regions such as Japan, China, and Sardinia, the frequency can be as high as 1 in 10,000 people. Recent genetic studies suggest that the number of carriers (those who carry one copy of the mutated gene) is higher than the number of diagnosed cases.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Etiology\"><\/span>Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The cause of Wilson disease is mutations in the ATP7B gene, leading to an inability to properly regulate copper in the body. The main mechanisms affected are:<\/p>\n\n\n\n<p>Impaired synthesis of ceruloplasmin, a protein that transports copper in the blood<\/p>\n\n\n\n<p>Failure to excrete copper through bile, leading to copper buildup in the liver<\/p>\n\n\n\n<p>The release of toxic, unbound copper into the bloodstream, which then damages organs such as the brain and kidneys<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span>Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u539f\u56e0\u306f\u3001ATP7B\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\uff08ceruloplasmin\uff09\u3068\u3044\u3046\u8840\u6db2\u4e2d\u306e\u9285\u3092\u904b\u3076\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044<\/li>\n\n\n\n<li>\u9285\u304c\u80c6\u6c41\u4e2d\u306b\u6392\u51fa\u3055\u308c\u305a\u306b\u809d\u81d3\u306b\u305f\u307e\u308a<\/li>\n\n\n\n<li>\u305d\u306e\u7d50\u679c\u3001\u809d\u81d3\u304b\u3089\u5168\u8eab\u306b\u6bd2\u6027\u3092\u3082\u3064\u300c\u904a\u96e2\u9285\uff08non-ceruloplasmin-bound copper\uff09\u300d\u304c\u653e\u51fa\u3055\u308c\u3001\u8133\u3084\u814e\u81d3\u3001\u89d2\u819c\u306a\u3069\u306b\u969c\u5bb3\u306b\u306a\u308b<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The symptoms of Wilson disease are varied, depending on where copper accumulates in the body:<\/p>\n\n\n\n<p>Liver (most commonly affected)<\/p>\n\n\n\n<p>Hepatitis, cirrhosis, liver failure<\/p>\n\n\n\n<p>Ascites (fluid buildup in the abdomen) and jaundice (yellowing of skin and eyes)<\/p>\n\n\n\n<p>Hemolytic anemia (destruction of red blood cells) in acute liver failure<\/p>\n\n\n\n<p>Rarely, liver cancer<\/p>\n\n\n\n<p>Neurological Symptoms<\/p>\n\n\n\n<p>Tremors, muscle rigidity<\/p>\n\n\n\n<p>Speech difficulties, swallowing issues<\/p>\n\n\n\n<p>Dystonia (abnormal muscle movements)<\/p>\n\n\n\n<p>Ataxia (unsteady movements)<\/p>\n\n\n\n<p>Parkinson-like symptoms (slowed movements, expressionless face)<\/p>\n\n\n\n<p>Seizures, cognitive impairment (memory and concentration problems)<\/p>\n\n\n\n<p>Psychiatric Symptoms<\/p>\n\n\n\n<p>Mood swings, irritability<\/p>\n\n\n\n<p>Depression, anxiety, insomnia<\/p>\n\n\n\n<p>Mental health issues often appear in adolescence or early adulthood<\/p>\n\n\n\n<p>Eye Findings<\/p>\n\n\n\n<p>Kayser-Fleischer ring: Green or brown ring around the cornea<\/p>\n\n\n\n<p>Sunflower cataract: Rare lens opacity that resembles a sunflower in shape<\/p>\n\n\n\n<p>Kidney and Endocrine Issues<\/p>\n\n\n\n<p>Proteinuria, aminoaciduria, glycosuria (kidney dysfunction)<\/p>\n\n\n\n<p>Hypoparathyroidism (low calcium levels)<\/p>\n\n\n\n<p>Bone and Blood Issues<\/p>\n\n\n\n<p>Osteoporosis, joint pain<\/p>\n\n\n\n<p>Hemolytic anemia (non-autoimmune type)<\/p>\n\n\n\n<p>Decreased platelets and white blood cells (due to spleen enlargement)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Testing_Diagnosis\"><\/span>Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The diagnosis of Wilson disease involves a combination of tests:<\/p>\n\n\n\n<p>Blood Tests<\/p>\n\n\n\n<p>Ceruloplasmin levels: Normally &lt;20 mg\/dL, although this is not always conclusive<\/p>\n\n\n\n<p>Serum copper levels: Free copper calculation is key for diagnosis<\/p>\n\n\n\n<p>Formula: Free Cu = Total Copper &#8211; (3.15 \u00d7 Ceruloplasmin)<\/p>\n\n\n\n<p>Free copper levels &gt;25 \u00b5g\/dL indicate active disease<\/p>\n\n\n\n<p>Urine Tests<\/p>\n\n\n\n<p>24-hour urinary copper excretion: &gt;100 \u00b5g\/day is diagnostic<\/p>\n\n\n\n<p>Imaging<\/p>\n\n\n\n<p>MRI: Abnormal signals in the brain, especially the basal ganglia and thalamus<\/p>\n\n\n\n<p>Slit-lamp examination: Detection of the Kayser-Fleischer ring<\/p>\n\n\n\n<p>Genetic Testing<\/p>\n\n\n\n<p>Full exonic analysis of the ATP7B gene (NGS) is recommended<\/p>\n\n\n\n<p>Genetic counseling is advised for family members<\/p>\n\n\n\n<p>Liver Biopsy (if necessary)<\/p>\n\n\n\n<p>Copper content &gt;250 \u00b5g\/g (dry weight) is diagnostic<\/p>\n\n\n\n<p>New Diagnostic Methods<\/p>\n\n\n\n<p>Mass spectrometry of ATP7B peptides: A promising future diagnostic tool, especially for detecting early-stage disease<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_Management\"><\/span>Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The goal of treatment is to remove excess copper and prevent further accumulation. Long-term treatment and follow-up are required.<\/p>\n\n\n\n<p>Medications<\/p>\n\n\n\n<p>D-penicillamine: Chelates copper for excretion via urine (used in early stages)<\/p>\n\n\n\n<p>Trientine: Similar to penicillamine, but preferred for those unable to tolerate penicillamine<\/p>\n\n\n\n<p>Zinc salts: Inhibit copper absorption in the gut (used for maintenance)<\/p>\n\n\n\n<p>Tetrathiomolybdate: Prevents copper binding to albumin (experimental)<\/p>\n\n\n\n<p>Neuro-psychiatric Management<\/p>\n\n\n\n<p>Tremors: Propranolol, clonazepam<\/p>\n\n\n\n<p>Dystonia\/Parkinsonism: Anticholinergics, levodopa<\/p>\n\n\n\n<p>Psychiatric symptoms: Antipsychotics, antidepressants as needed<\/p>\n\n\n\n<p>Surgical Treatment<\/p>\n\n\n\n<p>Deep brain stimulation (DBS): Effective for severe dystonia and tremors<\/p>\n\n\n\n<p>Liver transplant: Considered for acute liver failure or advanced cirrhosis<\/p>\n\n\n\n<p>Diet and Lifestyle<\/p>\n\n\n\n<p>Avoid copper-rich foods (e.g., liver, shellfish, chocolate, nuts)<\/p>\n\n\n\n<p>Avoid copper-containing water and supplements<\/p>\n\n\n\n<p>Regular follow-up every 6-12 months is crucial<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span>Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>With early diagnosis and ongoing treatment, patients can lead healthy lives. However, neurological symptoms may not fully reverse, even with treatment. Stopping treatment or non-compliance (especially during adolescence) significantly increases the risk of disease relapse.<\/p>\n\n\n\n<p>Liver transplants restore liver function, but not all symptoms improve.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Helpful_Terms\"><\/span>Helpful Terms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Copper: An essential metal for human health, but toxic in excess<\/li>\n\n\n\n<li>Ceruloplasmin: A protein that carries copper in the blood<\/li>\n\n\n\n<li>Autosomal Recessive Inheritance: Both parents must pass on a mutated gene for the disease to develop<\/li>\n\n\n\n<li>Chelating Agent: A medication that binds to toxic metals like copper and helps remove them from the body<\/li>\n\n\n\n<li>Kayser-Fleischer Ring: A green or brown ring in the eye cornea due to copper buildup<\/li>\n\n\n\n<li>Dystonia: Involuntary muscle movements<\/li>\n\n\n\n<li>Cirrhosis: Scarring of the liver that impairs its function<\/li>\n\n\n\n<li>Immuno-SRM: A diagnostic technique for detecting proteins in the blood with high precision<\/li>\n\n\n\n<li>ATP7B: The gene responsible for copper transport<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span>References<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.celrep.2023.112417\">Yang, Guo-Min, et al. \u2018Structures of the Human Wilson Disease Copper Transporter ATP7B\u2019. <em>Cell Reports<\/em>, vol. 42, no. 5, May 2023, p. 112417. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.celrep.2023.112417.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1126\/sciadv.abl5508\">Bitter, Ryan M., et al. \u2018Structure of the Wilson Disease Copper Transporter ATP7B\u2019. Science Advances, vol. 8, no. 9, Mar. 2022, p. eabl5508. DOI.org (Crossref), https:\/\/doi.org\/10.1126\/sciadv.abl5508.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1053\/j.gastro.2021.02.052\">Collins, Christopher J., et al. \u2018Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease\u2019. Gastroenterology, vol. 160, no. 7, June 2021, pp. 2367-2382.e1. DOI.org (Crossref), https:\/\/doi.org\/10.1053\/j.gastro.2021.02.052.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms25042402\">Ovchinnikova, Elena Vasilievna, et al. \u2018Epidemiology of Wilson\u2019s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions\u2019. <em>International Journal of Molecular Sciences<\/em>, vol. 25, no. 4, Feb. 2024, p. 2402. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/ijms25042402.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12063596\/\">Ganaraja VH, Holla VV, Pal PK. Current Management of Neurological Wilson&#8217;s Disease. Tremor Other Hyperkinet Mov (N Y). 2025 May 5;15:17. doi: 10.5334\/tohm.938. PMID: 40351566; PMCID: PMC12063596.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jcm10215097\">Kasztelan-Szczerbinska, Beata, and Halina Cichoz-Lach. \u2018Wilson\u2019s Disease: An Update on the Diagnostic Workup and Management\u2019. <em>Journal of Clinical Medicine<\/em>, vol. 10, no. 21, Oct. 2021, p. 5097. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/jcm10215097.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.gpeds.2024.100142\">Pop, Tudor Lucian, and Alina Grama. \u2018New Developments in the Management of Wilson\u2019s Disease in Children\u2019. <em>Global Pediatrics<\/em>, vol. 8, June 2024, p. 100142. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.gpeds.2024.100142.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5, Wilson disease, ATP7B, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>, \u9285\u4ee3\u8b1d\u7570\u5e38, \u809d\u30ec\u30f3\u30ba\u6838\u5909\u6027\u75c7, \u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3, \u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a, \u795e\u7d4c\u75c7\u72b6, \u7cbe\u795e\u75c7\u72b6, \u809d\u786c\u5909, \u6025\u6027\u809d\u4e0d\u5168, \u30ad\u30ec\u30fc\u30c8\u7642\u6cd5, \u4e9c\u925b\u7642\u6cd5, \u30c8\u30ea\u30a8\u30f3\u30c1\u30f3, D-\u30da\u30cb\u30b7\u30e9\u30df\u30f3, \u907a\u4f1d\u5b50\u691c\u67fb, \u8cea\u91cf\u5206\u6790, \u904a\u96e2\u9285, \u4ea4\u63db\u53ef\u80fd\u9285, \u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc, \u8133MRI, \u5c0f\u5150\u809d\u75be\u60a3, \u5e0c\u5c11\u75be\u60a3, \u8907\u96d1\u306a\u75c7\u72b6, ATP\u30a2\u30fc\u30bc, \u69cb\u9020\u89e3\u6790, \u9285\u8f38\u9001, p.H1069Q, p.R778L, \u795e\u7d4c\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5, \u9285\u8f38\u9001\u7d4c\u8def, \u809d\u79fb\u690d, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0, \u30da\u30d7\u30c1\u30c9\u8a3a\u65ad, \u514d\u75abSRM, \u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0, \u907a\u4f1d\u5b50\u6cbb\u7642<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"MedicalCondition\",\n  \"name\": 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