ReviewJournal of inherited metabolic disease1998
Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
Review in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00865514 (Pharmacotoxicology of Trichloroethylene Metabolites), which is not on this map. Cited by 67 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Pharmacotoxicology of Trichloroethylene Metabolites: Short-term Effect of DCA on in Vivo Tyrosine Catabolism and MAAI Expression
Who cites it
67 citing papers in PubMed, 264 citations in OpenAlex.
- A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.Molecular genetics and metabolism · 2011Trial
- Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.Journal of inherited metabolic disease · 2003Trial
- Disease associated missense substitutions disrupt structural stability and catalytic function of 4-hydroxyphenylpyruvate dioxygenase.The Journal of biological chemistry · 2026Article
- Effect of a Reduced-Protein Diet Supplemented with Essential Amino Acids on the Muscle Proteome of Female and Entire Male Finishing Pigs.Animals : an open access journal from MDPI · 2025Article
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- 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 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia.Molecular genetics and metabolism reports · 2024Article
- Article
- A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.International journal of neonatal screening · 2023Article
- CRISPR-Based Tools for Fighting Rare Diseases.Life (Basel, Switzerland) · 2022Review
- Article
- Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.Journal of inherited metabolic disease · 2022Article
- Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.Metabolites · 2022Review
- Gene editing and its applications in biomedicine.Science China. Life sciences · 2022Review
- Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria.JIMD 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
- EU FP7 research funding for an orphan drug (Orfadin®) and vaccine (Hep C) development: a success and a failure?Journal of pharmaceutical policy and practice · 2021Article
- Targeting glioma-initiating cells via the tyrosine metabolic pathway.Journal of neurosurgery · 2021Article
- Repurposing the orphan drug nitisinone to control the transmission of African trypanosomiasis.PLoS biology · 2021Article
- Type 1 tyrosinemia in Finland: a nationwide study.Orphanet journal of rare diseases · 2020Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In tyrosinaemia type I (McKusick 276700), fatal liver disease results either because of liver failure during infancy or early childhood or because of development of hepatocellular carcinoma during childhood or adolescence. This is caused by toxic metabolites which accumulate because of deficiency of fumarylacetoacetase, the last enzyme in the tyrosine catabolic pathway. NTBC is a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase and has been shown to efficiently prevent tyrosine degradation, and production of succinylacetone, in patients with tyrosinaemia. Since the first trial of NTBC treatment for tyrosinaemia type I in 1991, over 220 patients have been treated by the drug using a protocol which includes regular follow-up with reports of clinical and laboratory investigations to the study centre in Gothenburg, where additional analysis of critical variables is done on regularly collected samples. The course of the disease in patients with acute tyrosinaemia has changed dramatically. Only 10% of the patients have not clinically responded to NTBC treatment. In half of these patients, successful liver transplantation has been performed which has further reduced the mortality rate during infancy to 5%. The international NTBC study has now been going for 5 years and data have emerged that indicate a decreased risk for early development of hepatocellular carcinoma in patients who started treatment at an early age. There are now 101 patients aged 2-8 years who have started NTBC treatment before 2 years of age, and no cancer has developed after 2 years of age among these patients. However, there is no safe age with respect to occurrence of liver cancer, which has been recognized at diagnosis at 1 year of age in one patient and after a few months of treatment in an infant who was given NTBC at 5 months of age.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.