ReviewThe application of clinical genetics2017
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).
Review in The application of clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 69 citations in OpenAlex.
- Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience.JIMD reports · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Nitisinone treatment protect hereditary tyrosinemia type I patients against inflammation, DNA and protein oxidative damage by decreasing succinylacetone levels.Metabolic brain disease · 2025Article
- Extracellular Matrix Microstructures Modulate Hepatic Methionine Cycle and Methylations.Biomacromolecules · 2025Article
- Gene modification therapies for hereditary diseases in the fetus.Prenatal diagnosis · 2023Review
- Phytochemicals as Invaluable Sources of Potent Antimicrobial Agents to Combat Antibiotic Resistance.Life (Basel, Switzerland) · 2023Review
- Article
- In vivo quantitative photoacoustic evaluation of the liver and kidney pathology in tyrosinemia.Photoacoustics · 2022Article
- Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.Molecular genetics and metabolism reports · 2022Article
- Review
- 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
- Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.Molecular genetics and metabolism · 2022Review
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (Molecular genetics and metabolism reports · 2022Article
- phytochemdb: a platform for virtual screening and computer-aided drug designing.Database : the journal of biological databases and curation · 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
- β-Cyclodextrin Derivative Grafted on Silica Gel Represents a New Polymeric Sorbent for Extracting Nitisinone from Model Physiological Fluids.Molecules (Basel, Switzerland) · 2021Article
- Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.International journal of molecular sciences · 2021Article
- Article
- Structural Similarities between Some Common Fluorophores Used in Biology, Marketed Drugs, Endogenous Metabolites, and Natural Products.Marine drugs · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of tyrosine and phenylalanine. This treatment option has completely changed the clinical course of patients suffering from HT-1 who used to die in the first few months to years of life from liver failure, renal dysfunction, and/or hepatocellular carcinoma (HCC). It is essential to start nitisinone therapy early in life to avoid sequelae; beginning treatment in the newborn period is ideal. As initial clinical symptoms of HT-1 are often atypical and because there is a clinically latent phase during the first few months of life in many patients, newborn screening is required to secure early diagnosis. Succinylacetone in blood is a reliable screening parameter whereas tyrosine is neither specific nor sensitive. Especially HCC, but also liver and kidney dysfunction, rickets, and neurological crises can be prevented in most patients if nitisinone therapy is started in the newborn period. It is essential to adhere to a low-protein diet to avoid tyrosine toxicity. Reversible eye symptoms may occur as a side-effect of nitisinone, but other side effects are rare. Neurocognitive development is impaired in some patients, and the reason for this is unclear. Metabolic monitoring includes measurement of tyrosine, succinylacetone, and nitisinone concentrations in blood.
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