Results 21 to 30 of about 1,396 (170)
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...
Taylor, Adam, Shepherd, Laura
core +7 more sources
Metabolites, 2022 Changes in the phenylalanine (PHE)/tyrosine (TYR) pathway metabolites before and during homogentisic acid (HGA)-lowering by nitisinone in the Suitability of Nitisinone in Alkaptonuria (AKU) 2 (SONIA 2) study enabled the magnitude of the flux in the ...
Lakshminarayan R. Ranganath +10 more
doaj +2 more sources
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria [PDF]
Metabolites, 2022 Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease.
Brendan P. Norman +12 more
doaj +3 more sources
Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria [PDF]
Metabolites, 2022 Background: Nitisinone-induced hypertyrosinaemia is well documented in Alkaptonuria (AKU), and there is uncertainty over whether it may contribute to a decline in cognitive function and/or mood by altering neurotransmitter metabolism.
Andrew S. Davison +6 more
doaj +4 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
Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature [PDF]
JIMD Reports, 2021 Four patients, from three families, with alkaptonuria receiving 4‐hydroxyphenylpyruvate dioxygenase‐inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo.
Lakshminarayan Ranganath +5 more
doaj +3 more sources
JIMD ReportsHereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam +7 more
doaj +2 more sources
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
The Application of Clinical Genetics, 2017 Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
doaj +1 more source
JIMD Reports, 2022 Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012.
Mohammad S. Z. Ahmad +6 more
doaj +2 more sources
Efficacy of Low Dose Nitisinone in the Management of Alkaptonuria
Molecular Genetics and Metabolism, 2019 To study the efficacy of low dosage of nitisinone in alkaptonuria.Alkaptonuria (AKU) is a rare genetic disease which induces deposition of homogentisic acid (HGA) in connective inducing premature arthritis, lithiasis, cardiac valve disease, fractures, muscle and tendon ruptures and osteopenia.
Jean-Louis Guéant +2 more
exaly +3 more sources