The Discovery of the Mode of Action of Nitisinone
Metabolites, 2022 This review briefly discusses the discovery of the mode of action of the triketone herbicide, 2-(2-nitro-4-trifluormethylbenzoyl)-1,3-cyclohexanedione and its use as a drug Nitisinone for the treatment of inborn errors of tyrosine metabolism.
Edward A Lock
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The potential of nitisinone for the treatment of alkaptonuria [PDF]
Expert Opinion on Orphan Drugs, 2019 ABSTRACTIntroduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metaboli...
Adam Michael Taylor
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Preventive use of nitisinone in alkaptonuria [PDF]
Orphanet Journal of Rare Diseases, 2021 Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention
Bruce H. R. Wolffenbuttel +2 more
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Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria [PDF]
Molecular Genetics and Metabolism Reports, 2022 Background: Although changes in the tyrosine pathway during nitisinone therapy are known, a complete characterization of the induced tyrosinaemia is lacking to improve disease management.
Andrew S Davison +2 more
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JIMD Reports, 2022 Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria 2 (SONIA 2), as
Brendan Norman, Anna Milan
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A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report [PDF]
Clinical Case ReportsA 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment.
Muhammad Wajid Siddique +5 more
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Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre [PDF]
Molecular Genetics and Metabolism, 2018 Does Nitisinone prevent the clinical progression of the Alkaptonuria?In this observational study on 39 patients, 2 mg of daily nitisinone inhibited ochronosis and significantly slowed the progression of AKU over a three-year period.Nitisinone is a beneficial therapy in Alkaptonuria.Nitisinone decreases homogentisic acid (HGA), but has not been shown to
Andrew S Davison +2 more
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An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]
Clinical Case ReportsTyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari +4 more
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Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria [PDF]
Scientific Reports, 2022 Nitisinone (NIT) produces inevitable but varying degree of tyrosinaemia. However, the understanding of the dynamic adaptive relationships within the tyrosine catabolic pathway has not been investigated fully.
L. R. Ranganath +11 more
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Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]
PLoS Neglected Tropical DiseasesNitisinone, a systemic inhibitor of tyrosine catabolism, has recently emerged as a promising endectocide with demonstrated lethality against mosquitoes and tsetse flies.
Laure Augendre +5 more
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