Results 21 to 30 of about 2,341 (138)

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1 [PDF]

Metabolites
Background/Objectives: Tyrosinemia type 1 (HT-1) is a treatable inherited disorder characterized by disrupted tyrosine metabolism, leading to severe liver, renal, and occasionally neurological dysfunction.
Anna Sidorina, Cristiano Rizzo, María Jesús Leal-Witt, Carolina Arias, Ignacio Cortés, Verónica Cornejo, Elisa Sacchetti, Giulio Catesini, Sara Boenzi, Carlo Dionisi-Vici, Karen Fuenzalida   +10 more
doaj   +2 more sources

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways [PDF]

Genes and Diseases, 2023
Colemonts-Vroninks Haaike, Norman P. Brendan, Van Laere Sven, Davison S. Andrew, Marcélis Lionel, Casimir Georges, Goyens Philippe, Claes Paul, De Bundel Dimitri, Martens Geert, Ranganath Lakshminarayan Rao, Vanhaecke Tamara, Gallagher James A, De Kock Joery   +13 more
doaj   +2 more sources

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. [PDF]

JIMD Rep, 2015
Hereditary tyrosinemia type 1 (HT1) (OMIM 276700) is a severe inherited metabolic disease affecting mainly hepatic and renal functions that leads to a fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH).
Angileri F, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T, Ball S, Tanguay RM.   +7 more
europepmc   +4 more sources

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. [PDF]

Genes (Basel), 2023
Neuckermans J, Lequeue S, Claes P, Heymans A, Hughes JH, Colemonts-Vroninks H, Marcélis L, Casimir G, Goyens P, Martens GA, Gallagher JA, Vanhaecke T, Bou-Gharios G, De Kock J.   +13 more
europepmc   +2 more sources

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři   +3 more
doaj   +1 more source

The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism. [PDF]

Expert Opin Orphan Drugs, 2020
Thompson WS, Mondal G, Vanlith CJ, Kaiser RA, Lillegard JB.   +4 more
europepmc   +2 more sources

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene.
Kazuo Kawabata, Jun Kido, Takanobu Yoshida, Shirou Matsumoto, Kimitoshi Nakamura   +4 more
doaj   +1 more source

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias. [PDF]

JIMD Rep
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Cyr D, Maranda B, Waters PJ.
europepmc   +2 more sources

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Journal of Gastrointestinal and Abdominal Radiology, 2020
Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown.
Somesh Singh, Rana Vishwadeep Mall, Pragya Chaturvedi, Rajnikant R. Yadav   +3 more
doaj   +1 more source