Results 51 to 60 of about 5,194 (193)

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

Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]

, 2017
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang, Lee, Ciaran M, Schneller, Jessica L, Venditti, Charles P   +3 more
core   +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

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

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

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 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

Liver transplantation before 1 year of age [PDF]

, 1987
Since 1981, 20 infants younger than 1 year of age received 26 orthotopic liver transplants. Immunosuppression was with cyclosporine and corticosteroids. Thirteen (65%) of the reciplents were discharged from the hospital.
Ascher, Baburao Koneru, Carlos O. Esquivel, Frederick Karrer, Gartner, Gordon, Iwatsuki, Kasai, Leonard Makowka, Robert D. Gordon, Rosenthal, Satoru Todo, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Wallis J. Marsh   +18 more
core   +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

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources