{"id":10129,"date":"2022-12-30T17:12:17","date_gmt":"2022-12-30T17:12:17","guid":{"rendered":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?page_id=10129"},"modified":"2022-12-30T17:12:17","modified_gmt":"2022-12-30T17:12:17","slug":"aromatic-l-amino-acid-decarboxylase-deficiency","status":"publish","type":"page","link":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/","title":{"rendered":"Aromatic l-amino acid decarboxylase deficiency"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--no-image hero--normal-spacing\">\n\t\t\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--center\">\n\t\t\t<div class=\"hero__content hero__content--center hero__content--no-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"u-mt-1 u-my-2\"><h1 class=\"hero__title hero__title--standard\" data-ptc-fitty=\"\">Aromatic L-amino Acid Decarboxylase (AADC) Deficiency<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Patients with AADC deficiency lack dopamine, an essential neurotransmitter that controls movement<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t<div class=\"hero__breadcrumbs\"><nav\n\tclass=\"breadcrumbs breadcrumbs--deep\"\n\taria-label=\"Breadcrumb\"\n>\n\t<ol class=\"breadcrumbs__list\" itemscope itemtype=\"https:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t<a class=\"breadcrumbs__link breadcrumbs__link--home breadcrumbs__link--light\" itemprop=\"item\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Homepage<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"1\" 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itemprop=\"name\">Aromatic l-amino acid decarboxylase deficiency<\/span>\n\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"3\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ol>\n<\/nav>\n<\/div>\n\t<\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-what-is-aadc-deficiency\">What is AADC Deficiency?<\/h4>\n\n\n\n<figure class=\"wp-block-image alignright size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"2560\" height=\"2047\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg\" alt=\"AADC deficiency signs and symptoms infographic\" class=\"wp-image-16417\" style=\"width:685px;height:auto\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg 2560w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-300x240.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1024x819.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-768x614.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1536x1228.jpg 1536w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-2048x1638.jpg 2048w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-400x320.jpg 400w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1126x900.jpg 1126w\" sizes=\"auto, (max-width: 2560px) 100vw, 2560px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img fetchpriority=\"high\" decoding=\"async\" width=\"2560\" height=\"2047\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg\" class=\"attachment-full size-full\" alt=\"AADC deficiency signs and symptoms infographic\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg 2560w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-300x240.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1024x819.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-768x614.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1536x1228.jpg 1536w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-2048x1638.jpg 2048w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-400x320.jpg 400w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1-1126x900.jpg 1126w\" sizes=\"(max-width: 2560px) 100vw, 2560px\" \/><\/button><\/figure>\n\n\n\n<p class=\"core-block core-paragraph\">Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the brain.<sup>1<\/sup> It interferes with the way the cells in the nervous system talk to each other through a person\u2019s neurotransmitters. In AADC deficiency, a genetic mutation leads to a decrease in the amount of neurotransmitters made by the body.<sup>1,2,3<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">AADC deficiency manifests with several key characteristics and symptoms. Many of these symptoms are noticed when a child is still an infant, at about 10 weeks old:<sup>1,2,3,4<\/sup><\/p>\n\n\n\n<ul class=\"core-block core-list core-list--ul\" class=\"wp-block-list\">\n<li>Poor muscle tone (hypotonia)<\/li>\n\n\n\n<li>Delayed development in head control, crawling, speech, and other areas<\/li>\n\n\n\n<li>Body movement disorders such as dystonia (twitching) or hypokinesia (decreased body movements)<\/li>\n\n\n\n<li>Involuntary eye movements (oculogyric crisis)<\/li>\n\n\n\n<li>Abnormally excessive sweating (hyperhidrosis)<\/li>\n\n\n\n<li>Hypersalivation<\/li>\n\n\n\n<li>Drooping eyelids (ptosis)<\/li>\n\n\n\n<li>Gastrointestinal problems such as reflux, diarrhea, or constipation<\/li>\n\n\n\n<li>Behavioral problems<\/li>\n\n\n\n<li>Sleep disturbances<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-common-is-aadc-deficiency-is-it-treatable\">How Common is AADC Deficiency? Is it Treatable?<\/h4>\n\n\n\n<figure class=\"wp-block-image alignleft size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"301\" height=\"156\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-prevalence.jpg\" alt=\"AADC deficiency prevalence\" class=\"wp-image-16416\"\/><\/figure>\n\n\n\n<p class=\"core-block core-paragraph\">AADC deficiency is an extremely rare disease.<sup>1<\/sup> Because its symptoms are similar to those of other diseases, it can be difficult and time-consuming to diagnose.<sup>1,3<\/sup> At this time, there is no cure for AADC deficiency.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Certain treatments can sometimes help improve a child\u2019s symptoms.<sup>1<\/sup> A pediatrician or general practitioner can advise on how to provide occupational or physical therapies which can improve quality of life. In addition, a doctor might refer AADC deficiency patients to a pediatric neurologist, a movement disorder specialist, a clinical geneticist or another specialist who can help identify relevant and helpful treatments.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\"><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-can-you-stay-informed-about-aadc-deficiency\">How Can You Stay Informed About AADC Deficiency?<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">There are multiple ways to become an AADC deficiency-informed parent, caregiver or health care provider.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">If you are a parent or caregiver, please visit <a href=\"https:\/\/aboutaadc.com\/\" target=\"_blank\" rel=\"noreferrer noopener\">AboutAADC.com<\/a><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">If you are a healthcare professional, please visit <a href=\"https:\/\/aadcinsights.com\/\" target=\"_blank\" rel=\"noreferrer noopener\">AADCInsights.com<\/a><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">If you are interested in no-cost AADC deficiency testing, please refer your physician to the following website for details: <a href=\"https:\/\/aadcinsights.com\/\" target=\"_blank\" rel=\"noreferrer noopener\">AADCinsights.com<\/a><\/p>\n\n\n\n<div  class=\"references-block color-theme--purple-steel\">\n\t<div class=\"references-block__wrapper\">\n\n\t\t\t\t\t<div class=\"references-block__title heading--6\">\n\t\t\t\tREFERENCES\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] Wassenberg T, et al. Orphanet J Rare Dis. 2017;12(1):12.<br \/>\n[2] Himmelreich N, et al. Mol Genet Metab. 2019;127(1):12-22.<br \/>\n[3] Pearson T et al. J Inherit Metab Dis. 2020 Sep;43(5):1121-1130.<br \/>\n[4] Saberian S et al. Poster presented at ISPOR 2021, 30 November \u2013 3 December, 2021<br \/>\n[5] PTC Therapeutics Data on File, Upstaza Summary of Product Characteristics (SmPC). July 2022. <\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div  class=\"text-block text-block--standard color-theme--sky-blue-partial\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\t\t\t<h3 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--3\"  data-ptc-fitty=\"\">Do you have questions?<\/span>\n\t\t\t<\/h3>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p><span class=\"NormalTextRun SCXP77754502 BCX0\">Please reach out if you would like to speak with\u00a0<\/span><span class=\"NormalTextRun SCXP77754502 BCX0\">us.<\/span><\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\t<div class=\"dual-cta__ctas dual-cta__ctas--same dual-cta__ctas--center\">\n\n\t\t\t\t\t<a href=\"mailto:PatientInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Patients &amp; Families<\/a>\n\t\t\n\t\t\t\t\t<a href=\"mailto:MedInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Healthcare Professionals<\/a>\n\t\t\n\t\t\n\t<\/div>\n\n\t<\/div>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"<p>What is AADC Deficiency? Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the brain.1 It interferes with the way the cells in the nervous system talk to each other through a person\u2019s neurotransmitters. In AADC deficiency, a genetic mutation leads to a decrease in the amount of neurotransmitters made by&hellip;<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":9951,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-10129","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Aromatic l-amino acid decarboxylase deficiency - PTC Therapeutics (Italy)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Aromatic l-amino acid decarboxylase deficiency\" \/>\n<meta property=\"og:description\" content=\"What is AADC Deficiency? 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Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the brain.1 It interferes with the way the cells in the nervous system talk to each other through a person\u2019s neurotransmitters. In AADC deficiency, a genetic mutation leads to a decrease in the amount of neurotransmitters made by&hellip;","og_url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/","og_site_name":"PTC Therapeutics (Italy)","og_image":[{"url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg","type":"","width":"","height":""}],"twitter_card":"summary_large_image","twitter_misc":{"Tempo di lettura stimato":"2 minuti"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/","name":"Aromatic l-amino acid decarboxylase deficiency - PTC Therapeutics (Italy)","isPartOf":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#website"},"primaryImageOfPage":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/#primaryimage"},"image":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/#primaryimage"},"thumbnailUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg","datePublished":"2022-12-30T17:12:17+00:00","breadcrumb":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/#breadcrumb"},"inLanguage":"it-IT","potentialAction":[{"@type":"ReadAction","target":["https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/"]}]},{"@type":"ImageObject","inLanguage":"it-IT","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/#primaryimage","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg","contentUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/10\/AADCd-Signs-and-Symptoms-scaled-1.jpg","width":2560,"height":2047,"caption":"AADC deficiency signs and symptoms infographic"},{"@type":"BreadcrumbList","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/panel.ptcbio.com\/it-p2025tc\/"},{"@type":"ListItem","position":2,"name":"Therapeutic Areas","item":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/"},{"@type":"ListItem","position":3,"name":"Aromatic l-amino acid decarboxylase deficiency"}]},{"@type":"WebSite","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#website","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/","name":"PTC Therapeutics Italia","description":"","publisher":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"it-IT"},{"@type":"Organization","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#organization","name":"PTC Therapeutics Italia","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/","logo":{"@type":"ImageObject","inLanguage":"it-IT","@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#\/schema\/logo\/image\/","url":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2026\/04\/ptcLogo.png","contentUrl":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2026\/04\/ptcLogo.png","width":542,"height":542,"caption":"PTC Therapeutics Italia"},"image":{"@id":"https:\/\/panel.ptcbio.com\/it-p2025tc\/#\/schema\/logo\/image\/"}}]}},"_links":{"self":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/10129","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/comments?post=10129"}],"version-history":[{"count":0,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/10129\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/pages\/9951"}],"wp:attachment":[{"href":"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-json\/wp\/v2\/media?parent=10129"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}