ArticleDrugs2006
Nitisinone in the treatment of hereditary tyrosinaemia type 1.
Article in Drugs, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 148 citations in OpenAlex.
- Hepatocellular carcinoma in a child with hereditary tyrosinemia type I despite early NTBC therapy: When should we suspect it?Radiology case reports · 2026Article
- Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.International journal of neonatal screening · 2024Article
- Highly Selective Electrosynthesis of 1Organic process research & development · 2024Article
- Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation.Canadian liver journal · 2024Review
- Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children.Clinical medicine insights. Pediatrics · 2024Article
- A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.International journal of neonatal screening · 2023Article
- Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.Scientific reports · 2023Article
- Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome.Children (Basel, Switzerland) · 2023Article
- Article
- New insights and advances on pyomelanin production: from microbial synthesis to applications.Journal of industrial microbiology & biotechnology · 2022Review
- Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.Orphanet journal of rare diseases · 2021Article
- Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study.Nutrients · 2021Article
- Pediatric Primary Hepatic Tumors: Diagnostic Considerations.Diagnostics (Basel, Switzerland) · 2021Review
- High-throughput behavioral screen in C. elegans reveals Parkinson's disease drug candidates.Communications biology · 2021Article
- Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.Cureus · 2020Article
- Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.Paediatric drugs · 2019Review
- Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.Clinical mass spectrometry (Del Mar, Calif.) · 2019Article
- Unusual first presentation of a metabolic disorder.BMJ case reports · 2019Article
- Selective Inhibitors of a Human Prolyl Hydroxylase (OGFOD1) Involved in Ribosomal Decoding.Chemistry (Weinheim an der Bergstrasse, Germany) · 2019Article
- Targeting Metalloenzymes for Therapeutic Intervention.Chemical reviews · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with liver failure but can be manifest as chronic liver disease. Rarely, it may present with nonhepatic manifestations such as renal dysfunction, porphyria-like illness or cardiomyopathy. There is a high lifetime risk of developing hepatocellular carcinoma (HCC). Prior to the development of liver transplantation, most patients died in childhood.The clinical manifestations stem from the cytotoxicity of tyrosine metabolites accumulating proximal to the metabolic defect. Nitisinone acts on tyrosine metabolism upstream of the defect to prevent the production of these metabolites. Nitisinone is used in combination with a tyrosine- and phenylalanine-restricted diet. Nitisinone has transformed the natural history of tyrosinaemia. Liver failure is controlled in 90% of patients, those with chronic liver disease improve and nonhepatic manifestations are abolished. Nitisinone is well tolerated and has few adverse effects other than a predictable rise in plasma tyrosine levels. Nitisinone provides protection against HCC if it is started in infancy, but if commenced after the age of 2 years, a significant risk of HCC remains. Furthermore, where nitisinone is used pre-emptively, liver disease appears to be prevented, suggesting the importance of neonatal screening for tyrosinaemia where possible. Nitisinone is indicated for all children with HT-1, and liver transplantation is only indicated where nitisinone fails, or where the development of HCC is likely or suspected.
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.