Results 51 to 60 of about 3,205 (146)

Liver Cancer in Tyrosinemia Type 1

, 2017
Hereditary Tyrosinemia type I (HT1) is clinically mainly characterised by severe liver disease. Most patients present in their first months of life with liver failure, but others can present later with issues of compensated cirrhosis, renal tubulopathy or acute intermittent porphyria.
van Ginkel, Willem G., Pennings, Jan P., van Spronsen, Francjan J.   +2 more
openaire   +2 more sources

Tyrosinemia type 1: Remaining challenges after introduction of NTBC [PDF]

, 2020
Tyrosinemia type 1 is an inherited metabolic disorder of tyrosine metabolism. Due to an enzymatic defect, the amino acid tyrosine cannot be catabolized properly. As tyrosine is an amino acid - a building block of proteins - dietary intake of protein results in the accumulation of tyrosine associated metabolites in patients with Tyrosinemia type 1 ...
openaire   +2 more sources

Tyrosinemia in a toddler, a case report

Annals of Hepatology, 2022
Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio, M Lescas Orozco, MR Lara Tostado, I Suárez Ponce, FA Reynoso Zarzosa   +4 more
doaj   +1 more source

A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia

Molecular Genetics and Metabolism Reports
Protein substitutes (PS) without tyrosine (Tyr) and phenylalanine (Phe), are an essential source of synthetic protein in the treatment of tyrosinemia (HT).
Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald   +4 more
doaj   +1 more source

Tyrosinemia type 1: A case report

Indian Journal of Child Health, 2014
Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumarylacetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. The accumulation of tyrosine and its toxic metabolites succinylacetone and succinyl acetoacetate in various tissues leads to the characteristic hepatic failure, renal ...
Shashikala Prabhakar, Nasima Banu, S Meghana   +2 more
openaire   +2 more sources

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

The role of inborn errors of metabolism in the etiology of neonatal cholestasis: A single center experience

Trends in Pediatrics, 2023
Objective: The evaluation of patients with neonatal cholestasis is difficult due to the variety of cholestatic syndromes and non-specific clinical findings. It is important to recognize treatable diseases promptly.
Ayse Ergül Bozacı, Fatma Demirbaş Ar, AYSEL Tekmenuray Ünal, İbrahim Taş, Hüseyin Bilgin   +4 more
doaj   +1 more source

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

P434 Tyrosinemia type 1: a case report [PDF]

Abstracts, 2019
Introduction Tyrosinemia type 1 is an AR inherited metabolic disorder attributed to deficiency of Fumarylacetoacetatehydrolase, which is a terminal enzyme in the metabolism of tyrosine. The gene for this enzyme has been mapped to the long arm of chromosome 15. Its prevalence has been reported as 1: 100.000.
Mahmoud Rashad, Carmen Nasser
openaire   +1 more source

Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates

The FEBS Journal, EarlyView.
In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi, Myra Gartner, Claris Simovich, Lihi Gershon, Alexander Brandis, Ehud Gazit, Dana Laor Bar‐Yosef   +6 more
wiley   +1 more source