{"id":4681,"date":"2022-10-08T13:05:50","date_gmt":"2022-10-08T11:05:50","guid":{"rendered":"http:\/\/2022.pharmacie-homeopathie.com\/blog\/?p=4681"},"modified":"2022-10-08T18:08:32","modified_gmt":"2022-10-08T16:08:32","slug":"alcaptonurie-maladie-rare","status":"publish","type":"post","link":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/","title":{"rendered":"L&#8217;Alcaptonurie"},"content":{"rendered":"<p><strong>L&#8217;alcaptonurie<\/strong> est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine (d\u00e9ficience de l&#8217;enzyme homogentisate 1,2 dioxygenase).<\/p>\n<p>Les malades atteints d\u2019Alcaptonurie n\u2019ont pas l\u2019enzyme appel\u00e9e acide HomoGentisique Oxydase qui doit permettre au corps d\u2019\u00e9liminer une mol\u00e9cule appel\u00e9e AHG.\u00a0Leur corps va donc accumuler cette mol\u00e9cule au fil des ann\u00e9es. Une partie de l\u2019<a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=FR&amp;Expert=56\" target=\"_blank\" rel=\"nofollow noopener\">AHG<\/a> va cependant \u00eatre \u00e9limin\u00e9 dans les urines. Le reste de l\u2019AHG va s\u2019accumuler dans les tissus et organes et aura un r\u00f4le toxique.<\/p>\n<p><em>L&#8217;alcaptonurie<\/em> touche environ entre 1 \u00e0 9 personne sur 1 000 000. C\u2019est une maladie g\u00e9n\u00e9tique rare.<\/p>\n<h2>Les sympt\u00f4mes de l&#8217;alcaptonurie sont variables d\u2019un malade \u00e0 un autre.<\/h2>\n<p>On nait avec cette maladie, mais elle est tr\u00e8s silencieuse pendant l\u2019enfance ! Donc, les sympt\u00f4mes apparaissent \u00e0 l\u2019\u00e2ge adulte. On peut cependant retenir les points suivants :<\/p>\n<ul>\n<li>Chez les b\u00e9b\u00e9s, les couches remplies de pipi laiss\u00e9es \u00e0 l\u2019air libre noircissent. En effet, <strong>le pipi devient noir <\/strong>\u00e0 cause de l\u2019AHG. Mais il est difficile de s\u2019en rendre compte, car en g\u00e9n\u00e9ral, les couches sont imm\u00e9diatement mises \u00e0 la poubelle\u00a0!<\/li>\n<\/ul>\n<p>Idem chez l\u2019enfant, l\u2019urine laiss\u00e9 \u00e0 l\u2019air libre finit par noircir.<\/p>\n<ul>\n<li>A l\u2019\u00e2ge adulte, les premiers sympt\u00f4mes sont\u00a0:\n<ul>\n<li>Des <strong>t\u00e2ches noires dans le blanc des yeux<\/strong>, sans que le vue ne soit affect\u00e9e.<\/li>\n<li>Des <strong>douleurs dans le dos<\/strong>, un dos \u00ab\u00a0raide\u00a0\u00bb<\/li>\n<li><strong>Des oreilles qui se colorent en bleu noir<\/strong>.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>Souvent, le sympt\u00f4me qui fait consulter un m\u00e9decin ou un rhumatologue est la douleur du dos, ou autres <strong>douleurs articulaires<\/strong> de forte intensit\u00e9. A 50 ans, cela peut \u00eatre confondu avec de l\u2019arthrose ou une hernie. La maladie peut toucher le c\u0153ur, les articulations, le rein\u2026 bref, l\u00e0 o\u00f9 la mol\u00e9cule AHG va s\u2019accumuler au fil du temps.<br \/>\nUn d\u00e9pistage pr\u00e9coce pendant l\u2019enfance est recommand\u00e9 pour limiter les effets de la maladie \u00e0 l\u2019\u00e2ge adulte.<\/p>\n<p>Pour en savoir plus\u00a0:<\/p>\n<ul>\n<li><a href=\"https:\/\/www.alcap.org\/\" target=\"_blank\" rel=\"nofollow noopener\">Alcap.org<\/a><\/li>\n<li><a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=FR&amp;Expert=56\" target=\"_blank\" rel=\"nofollow noopener\">Orpha.net<\/a><\/li>\n<li><a href=\"https:\/\/www.has-sante.fr\/jcms\/p_3282779\/fr\/orfadin-nitisinone-alcaptonurie#:~:text=L'alcaptonurie%20est%20une%20maladie,'acide%20homogentisique%20(AHG)\" target=\"_blank\" rel=\"nofollow noopener\">Has-sante.<\/a><\/li>\n<li><a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Clinics_Networks.php?lng=FR&amp;data_id=113086&amp;title=G2M%20-%20Fili%E8re%20de%20sant%E9%20maladies%20rares%20:%20maladies%20h%E9r%E9ditaires%20du%20m%E9tabolisme&amp;search=Clinics_Networks_Disease\">Fili\u00e8re maladies rares-organisation des centres hospitaliers sp\u00e9cialis\u00e9s<\/a><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>L&#8217;alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine (d\u00e9ficience de l&#8217;enzyme homogentisate 1,2 dioxygenase). Les<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[409],"tags":[410],"class_list":["post-4681","post","type-post","status-publish","format-standard","hentry","category-maladies-rares","tag-alcaptonurie"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>L&#039;Alcaptonurie - Maladie rare<\/title>\n<meta name=\"description\" content=\"L&#039;alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L&#039;Alcaptonurie - Maladie rare\" \/>\n<meta property=\"og:description\" content=\"L&#039;alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/\" \/>\n<meta property=\"og:site_name\" content=\"HOMEO EXPERT\u00ae\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/HomeoExpert\/\" \/>\n<meta property=\"article:author\" content=\"https:\/\/www.facebook.com\/HomeoExpert\" \/>\n<meta property=\"article:published_time\" content=\"2022-10-08T11:05:50+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-10-08T16:08:32+00:00\" \/>\n<meta name=\"author\" content=\"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HBerrueGaillard\" \/>\n<meta name=\"twitter:site\" content=\"@PharmaHomeo\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"L'Alcaptonurie - Maladie rare","description":"L'alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/","og_locale":"fr_FR","og_type":"article","og_title":"L'Alcaptonurie - Maladie rare","og_description":"L'alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine.","og_url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/","og_site_name":"HOMEO EXPERT\u00ae","article_publisher":"https:\/\/www.facebook.com\/HomeoExpert\/","article_author":"https:\/\/www.facebook.com\/HomeoExpert","article_published_time":"2022-10-08T11:05:50+00:00","article_modified_time":"2022-10-08T16:08:32+00:00","author":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","twitter_card":"summary_large_image","twitter_creator":"@HBerrueGaillard","twitter_site":"@PharmaHomeo","twitter_misc":{"\u00c9crit par":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","Dur\u00e9e de lecture estim\u00e9e":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/#article","isPartOf":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/"},"author":{"name":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/da8c737b6b3ffd91c8a027a379df93c4"},"headline":"L&#8217;Alcaptonurie","datePublished":"2022-10-08T11:05:50+00:00","dateModified":"2022-10-08T16:08:32+00:00","mainEntityOfPage":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/"},"wordCount":362,"commentCount":0,"publisher":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization"},"keywords":["Alcaptonurie"],"articleSection":["Un jour \u2013 une maladie rare"],"inLanguage":"fr-FR","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/","name":"L'Alcaptonurie - Maladie rare","isPartOf":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#website"},"datePublished":"2022-10-08T11:05:50+00:00","dateModified":"2022-10-08T16:08:32+00:00","description":"L'alcaptonurie est une maladie g\u00e9n\u00e9tique rare provoqu\u00e9e par un blocage du catabolisme de la ph\u00e9nylalanine et de la tyrosine.","breadcrumb":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/alcaptonurie-maladie-rare\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Accueil","item":"https:\/\/www.pharmacie-homeopathie.com\/blog\/"},{"@type":"ListItem","position":2,"name":"Un jour \u2013 une maladie rare","item":"https:\/\/www.pharmacie-homeopathie.com\/blog\/category\/maladies-rares\/"},{"@type":"ListItem","position":3,"name":"L&#8217;Alcaptonurie"}]},{"@type":"WebSite","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#website","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/","name":"HOMEO EXPERT\u00ae","description":"Le blog de la Pharmacie Hom\u00e9opathique Centrale \u00e0 Paris","publisher":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.pharmacie-homeopathie.com\/blog\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization","name":"Pharmacie Hom\u00e9opathique Centrale Paris - PHC","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/logo\/image\/","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-content\/uploads\/2018\/11\/phc-logo.png","contentUrl":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-content\/uploads\/2018\/11\/phc-logo.png","width":280,"height":113,"caption":"Pharmacie Hom\u00e9opathique Centrale Paris - PHC"},"image":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.facebook.com\/HomeoExpert\/","https:\/\/x.com\/PharmaHomeo","https:\/\/www.youtube.com\/channel\/UCjrIcslKFiRvnhDZ26jyXYQ","https:\/\/www.pinterest.fr\/pin\/103864335143240482\/"]},{"@type":"Person","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/da8c737b6b3ffd91c8a027a379df93c4","name":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","image":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/62bb826f364c8f69694d23642e4dbaa9ef15bdd269e8ad2f38e407c43ba0b8ca?s=96&d=blank&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/62bb826f364c8f69694d23642e4dbaa9ef15bdd269e8ad2f38e407c43ba0b8ca?s=96&d=blank&r=g","caption":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC"},"sameAs":["https:\/\/www.facebook.com\/HomeoExpert","https:\/\/www.linkedin.com\/in\/hlne-berrue-gaillard-7668202a\/","https:\/\/x.com\/HBerrueGaillard"]}]}},"_links":{"self":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4681","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/comments?post=4681"}],"version-history":[{"count":4,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4681\/revisions"}],"predecessor-version":[{"id":4685,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4681\/revisions\/4685"}],"wp:attachment":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/media?parent=4681"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/categories?post=4681"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/tags?post=4681"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}