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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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 +2 more
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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 Davison +2 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 Davison +2 more
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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
doaj +3 more sources
Inter-Laboratory Analytical Improvement of Succinylacetone and Nitisinone Quantification From Dried Blood Spot Samples [PDF]
JIMD Reports, 2020 Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both
Charles Turner +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
doaj +3 more sources
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
doaj +5 more sources
Reversal of Ochronotic Pigmentation in Alkaptonuria Following Nitisinone Therapy: Analysis of Data From the United Kingdom National Alkaptonuria Centre [PDF]
JIMD Reports, 2020 Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
Andrew Davison +2 more
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