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This retrospective single-centre study assessed NTBC measurements against established biomarkers in 12 NTBC-treated patients over 6 years. Correlations were analyzed between NTBC, succinylacetone, δ-aminolevulinic acid (δ-ALA) and alpha-fetoprotein, and tyrosine/phenylalanine were compared in dried blood spots and plasma. Results showed broader succinylacetone suppression across NTBC levels, while δ-ALA may rise despite unquantifiable succinylacetone. NTBC showed limited correlation with alpha-fetoprotein, and DBS nutritional monitoring had variable bias, supporting succinylacetone-focused strategies with complementary δ-ALA and alpha-fetoprotein.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/therapeutic-monitoring-of-patients-with-hereditary-tyrosinemia-type-1-a-belgian-monocentric-experience/455400/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/therapeutic-monitoring-of-patients-with-hereditary-tyrosinemia-type-1-a-belgian-monocentric-experience/455400.png","ImageObject",300,407,{"name":92,"@type":93},"pixelkiddo","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-27","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What was the main goal of this study?","Question",{"text":112,"@type":113},"To evaluate the clinical utility of NTBC measurements compared with established biomarkers for therapeutic monitoring in HT-1 patients.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Which biomarkers were compared against NTBC?",{"text":117,"@type":113},"The study compared NTBC with succinylacetone, δ-aminolevulinic acid (δ-ALA), alpha-fetoprotein, and also assessed tyrosine and phenylalanine in dried blood spots and plasma.",{"name":119,"@type":110,"acceptedAnswer":120},"What did the study suggest about monitoring using NTBC blood levels?",{"text":121,"@type":113},"Blood succinylacetone better reflected metabolic control across a range of NTBC concentrations, while NTBC added limited value for long-term monitoring and was not strongly correlated with alpha-fetoprotein.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},455400,1791174023,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":39,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":46,"preview_page_count":4},962090883892,"https://ap-avatar.wpscdn.com/avatar/e00115db34f3e0f11b?x-image-process=image/resize,m_fixed,w_180,h_180&k=1790152879550218658","JIMD Reports  \nRESEARCH REPORT  OPEN ACCESS   \nTherapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience  \nAnne-Sophie Adam1  | Lionel Marcélis2 | David Fage1 | Elise Mathieu1 | Aurélie Empain3,4 | Céline Dufour3,4 | Frédéric Cotton1 | Corinne de Laet3,4  \n1Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium | 2Laboratory of Paediatric Research, Université Libre de Bruxelles, Brussels, Belgium | 3Nutrition and Metabolic Clinic, Brussels University Hospital, Academic Children Hospital Queen Fabiola, Université libre de Bruxelles, Brussels, Belgium | 4European Reference Network for Hereditary Metabolic Disorders (MetabERN)  \nMember, Padova, Italy  \nCorrespondence: Corinne de Laet ([corinne.delaet@hubruxelles.be](corinne.delaet@hubruxelles.be))  \nReceived: 21 June 2025 | Revised: 4 December 2025 | Accepted: 10 December 2025  \nKeywords: dried blood spot | hereditary tyrosinemia type-1 | nitisinone | succinylacetone | therapeutic monitoring  \nABSTRACT  \nHereditary tyrosinemia type I (HT-1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow-up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options. However, the optimal biochemical monitoring remains debated. This study evaluated the clinical utility of NTBC measurements compared with established biomarkers in HT-1. In this retrospective single-centre study, we analysed biological data from 12 HT-1 patients treated with NTBC over 6years. We analysed correlations between NTBC, succinylacetone, δ-aminolevulinic acid (δ-ALA) and alpha-fetoprotein concentrations, and compared tyrosine and phenylalanine levels in DBS and plasma. Succinylacetone suppression in both urine and blood was achieved across a broad range of NTBC concentrations, suggesting that blood succinylacetone is a more reliable marker of metabolic control than NTBC levels. Elevated urinary δ-ALA levels were observed in some samples despite unquantifiable succinylacetone, indicating that succinylacetone may not fully reflect neurological risk. NTBC concentrations showed limited correlation with alpha-fetoprotein, reinforcing the continued need for imaging in hepatocellular carcinoma surveillance. DBS measurement of tyrosine and phenylalanine displayed variable biases relative to plasma, particularly for tyrosine, highlighting the challenges of using DBS for nutritional monitoring. While NTBC remains central in the treatment of HT-1 patients, its blood concentrations offer limited added value for long-term monitoring. Focusing on succinylacetone measurement, along with δ-ALA and alpha-fetoprotein to evaluate neurological and hepatic risks, is recommended. Plasma remains the preferred matrix for amino acids monitoring. Larger multi-centre studies are needed to confirm these findings.  \n1 | Introduction  \nHereditary tyrosinemia type I (HT-1, OMIM 276700) is a rare autosomal recessive disorder of tyrosine (Tyr) catabolism, with an estimated global incidence of 1:100 000 live births, though it is more frequent in regions with founder effects [1, 2] .  \nHT-1 is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH, EC [3.7.1.2](3.7.1.2)), the final enzyme in the Tyr  \ncatabolism pathway [3] . This deficiency leads to the accumulation of toxic intermediates (i.e., maleylacetoacetate, fumarylacetoacetate, succinylacetoacetate, and succinylacetone (SA)), responsible for the hepatic, renal, and neurological damages that may coexist in these patients [4–8] .  \nBefore the 1990s, treatment options were limited to dietary restrictions ofTyr and phenylalanine (Phe), and liver or combined liver-kidney transplantation [9] . In 1992, the discovery of the  \nThis is an open access article under the terms of the Creative Commons At","cbCairHkELQjEzV9","https://ap.wps.com/l/cbCairHkELQjEzV9","pdf",1122843,"English","# Abstract\n# Introduction\n## Disease background and genetics\n## Treatment evolution and rationale\n# Key points","[{\"question\":\"What was the main goal of this study?\",\"answer\":\"To evaluate the clinical utility of NTBC measurements compared with established biomarkers for therapeutic monitoring in HT-1 patients.\"},{\"question\":\"Which biomarkers were compared against NTBC?\",\"answer\":\"The study compared NTBC with succinylacetone, δ-aminolevulinic acid (δ-ALA), alpha-fetoprotein, and also assessed tyrosine and phenylalanine in dried blood spots and plasma.\"},{\"question\":\"What did the study suggest about monitoring using NTBC blood levels?\",\"answer\":\"Blood succinylacetone better reflected metabolic control across a range of NTBC concentrations, while NTBC added limited value for long-term monitoring and was not strongly correlated with alpha-fetoprotein.\"}]","Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1 - A Belgian Monocentric Experience | PDF",1790742778]