Results 31 to 40 of about 2,341 (138)

Tyrosinemia type I: an unusual case presentation

Journal of Biochemical and Clinical Genetics, 2022
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj   +1 more source

Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients

Pediatric Research, 2021
Despite successful treatment with nitisinone, the pathophysiology of long-term complications, including hepatocellular carcinoma and mental decline in tyrosinemia type 1 patients, is still obscure. Oxidative stress may play a role in these complications.
Ayse Cigdem Aktuglu Zeybek, Ertugrul Kiykim, Salim Neselioglu, Halise Zeynep Iscan, Tanyel Zubarioglu, Mehmet Serif Cansever, Ozcan Erel   +6 more
openaire   +5 more sources

Hereditary tyrosinemia type 1 in children

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019
Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of ...
G. V. Volynets, A. V. Nikitin, T. A. Skvortsova   +2 more
openaire   +2 more sources

5-Aminolevulinic acid: A matter of life and caveats

Journal of Photochemistry and Photobiology, 2021
Our mini-review concerns the potential adverse pro-oxidant role of 5-aminolevulinic (ALA), the first protoporphyrin IX (PP-IX)/heme precursor widely used in commercial formulations for endogenous photodynamic therapy (PDT).
Etelvino J.H. Bechara, Luiz D. Ramos, Cassius V. Stevani   +2 more
doaj   +1 more source

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

BMC Medical Genomics, 2022
Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway.
Jiao Chen, Junhui Sun, Xuefang Li, Mengmeng Du   +3 more
doaj   +1 more source

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

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
Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck   +9 more
doaj   +1 more source

Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1

Gene, 2012
The autosomal recessive disorder, hereditary tyrosinemia type 1 (HT1), is caused by a defective fumarylacetoacetate hydrolase enzyme. Consequently intermediate metabolites such as fumarylacetoacetate, succinylacetone and p-hydroxyphenylpyruvic acid accumulate. Characteristic to HT1 is the development of hepatocellular carcinoma, irrespective of dietary
Pretorius, Petrus Jacobus, Van Dyk, Etresia   +1 more
openaire   +3 more sources

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. [PDF]

PLoS ONE, 2017
Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine ...
Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen   +6 more
doaj   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives. [PDF]

J Inherit Metab Dis
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Pietrobattista A, Martinelli D, Spada M, Dionisi-Vici C.   +3 more
europepmc   +2 more sources

Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia

Revista Finlay, 2023
Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés, Beliany Pacheco Suárez, Dulce María Charón Savón   +2 more
doaj