ReviewPaediatric drugs2019
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
Review in Paediatric drugs, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 55 citations in OpenAlex.
- Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder.Orphanet journal of rare diseases · 2026Article
- Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience.JIMD reports · 2026Article
- Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1.Metabolites · 2025Article
- Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.Indian pediatrics · 2025Article
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes.Orphanet journal of rare diseases · 2025Article
- Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.International journal of molecular sciences · 2025Article
- A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria.International journal of molecular sciences · 2025Article
- Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.Journal of inherited metabolic disease · 2025Review
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- Case report: ADHD and prognosis in tyrosinemia type 1.Frontiers in psychiatry · 2023Article
- Delivery of RNAs to Specific Organs by Lipid Nanoparticles for Gene Therapy.Pharmaceutics · 2022Review
- mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model.Molecular therapy. Methods & clinical development · 2022Article
- In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions.Nature communications · 2022Article
- Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.Pediatric research · 2022Article
- Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1.Indian journal of pediatrics · 2022Article
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (Molecular genetics and metabolism reports · 2022Article
- NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers.Journal of clinical medicine · 2021Article
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Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review showed that the introduction of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in 1992 has revolutionized the outcome of TT1 patients, especially when started pre-clinically. If started early, NTBC can prevent liver failure, renal problems, and neurological attacks and decrease the risk for hepatocellular carcinoma. NTBC has been shown to be safe and well tolerated, although the long-term effectiveness of treatment with NTBC needs to be awaited. The high tyrosine concentrations caused by treatment with NTBC could result in ophthalmological and skin problems and requires life-long dietary restriction of tyrosine and its precursor phenylalanine, which could be strenuous to adhere to. In addition, neurocognitive problems have been reported since the introduction of NTBC, with hypothesized but as yet unproven pathophysiological mechanisms. Further research should be done to investigate the possible relationship between important clinical outcomes and blood concentrations of biochemical parameters such as phenylalanine, tyrosine, succinylacetone, and NTBC, and to develop clear guidelines for treatment and follow-up with reliable measurements. This all in order to ultimately improve the combined NTBC and dietary treatment and limit possible complications such as hepatocellular carcinoma development, neurocognitive problems, and impaired quality of life.
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