Results 1 to 10 of about 185 (117)
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
exaly +5 more sources
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
doaj +3 more sources
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
exaly +2 more sources
Adequacy of nitisinone for the management of alkaptonuria
Annals of Medicine and Surgery, 2022 Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts and initializes tissue damage. Clinical manifestations such as pigmentation of the skin areas and joint destruction result in ochronosis.
Khawar Abbas, Mohammad Ebad Ur Rehman
exaly +3 more sources
Nitisinone causes acquired tyrosinosis in alkaptonuria [PDF]
Journal of Inherited Metabolic Disease, 2020 AbstractFor over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy as a disease modifying ...
Andrew S Davison, , Brendan Norman
exaly +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 +3 more sources
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
exaly +3 more sources
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
RMD Open, 2022 Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or ...
Lakshminarayan R Ranganath +19 more
doaj +3 more sources
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 +2 more sources