Results 21 to 30 of about 1,331 (171)

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 ...
Anibh Martin Das
exaly   +3 more sources

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria

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, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan   +10 more
doaj   +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

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, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath   +19 more
doaj   +3 more sources

The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake [PDF]

Parasites & Vectors
Background Insecticide resistance in disease-transmitting arthropods of agricultural, veterinary, and public health significance poses a significant threat to vector control programs worldwide.
Zachary Thomas Stavrou-Dowd, George Parsons, Clair Rose, Faye Brown, Rosemary Susan Lees, Álvaro Acosta-Serrano, Lee Rafuse Haines   +6 more
doaj   +2 more sources

Nitisinone: a review

Orphan Drugs: Research and Reviews, 2017
A Cigdem Aktuglu-Zeybek, Tanyel Zubarioglu Department of Pediatrics, Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, Istanbul, Turkey Abstract: Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]cyclohexane-1,3-dione), an effective triketone herbicide, is a potent inhibitor of
Tanyel Zubarioglu, Cigdem Aktuglu Zeybek   +1 more
exaly   +5 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, Andrew S. Davison, Bryony Hickton, Gordon A. Ross, Anna M. Milan, Andrew T. Hughes, Peter J. M. Wilson, Hazel Sutherland, Juliette H. Hughes, Norman B. Roberts, George Bou-Gharios, James A. Gallagher, Lakshminarayan R. Ranganath   +12 more
doaj   +2 more sources

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports
Hereditary 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, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +2 more sources

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study. [PDF]

Cureus
Background and aim Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and slow disease progression in AKU, but the effects of this treatment on ...
Bruce C, Meenamkuzhy-Hariharan P, Hussain S, Eleuteri A, Ranganath L, Fisher M, Imrich R, Arnoux JB, Olsson B, Rudebeck M.   +9 more
europepmc   +4 more sources

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status. [PDF]

J Inherit Metab Dis
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Flaharty KA, Chandrasekar V, Castillo IJ, Duong D, Ferreira CR, Ledgister Hanchard S, Hu P, Waikel RL, Rossignol F, Introne WJ, Solomon BD.   +10 more
europepmc   +2 more sources