Results 21 to 30 of about 3,205 (146)

Tyrosinemia type 1 and ADHD like symptoms similarity or comorbidity about a case [PDF]

Eur Psychiatry, 2023
Introduction Many metabolic diseases influence brain function and are associated with psychiatric symptoms and neuropsychiatric disorders (including autism-spectrum disorders, ADHD and psychotic disorders).
Belhadga H, Elmaataoui Z, Kisra H.
europepmc   +2 more sources

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review. [PDF]

Front Pediatr, 2021
Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Daou KN, Barhoumi A, Bassyouni A, Karam PE.   +3 more
europepmc   +2 more sources

A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. [PDF]

Int J Neonatal Screen, 2023
Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker
Dijkstra AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA.   +9 more
europepmc   +2 more sources

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review. [PDF]

Clin Case Rep
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Rouhafshari M, Hadi Imanieh M, Khazaei M, Radaei Z, Barzegar H.   +4 more
europepmc   +2 more sources

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1. [PDF]

Metabol Open, 2021
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to ...
Dweikat I, Qawasmi N, Najeeb A, Radwan M.   +3 more
europepmc   +2 more sources

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening. [PDF]

Mol Genet Metab Rep, 2022
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, Brassier A, Arnoux JB, Bouchereau J, Pichard S, Sissaoui S, Lacaille F, Girard M, Debray D, de Lonlay P, Schiff M.   +15 more
europepmc   +2 more sources

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.
Sidorina A, Rizzo C, Leal-Witt MJ, Arias C, Cortés I, Cornejo V, Sacchetti E, Catesini G, Boenzi S, Dionisi-Vici C, Fuenzalida K.   +10 more
europepmc   +2 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1. [PDF]

Int J Neonatal Screen
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Cavan BCV, de Castro-Hamoy LG, Abarquez CG, Maceda EBG, Alcausin MMLB.   +4 more
europepmc   +2 more sources

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions. [PDF]

Nat Commun, 2022
Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Nicolas CT, VanLith CJ, Hickey RD, Du Z, Hillin LG, Guthman RM, Cao WJ, Haugo B, Lillegard A, Roy D, Bhagwate A, O'Brien D, Kocher JP, Kaiser RA, Russell SJ, Lillegard JB.   +15 more
europepmc   +2 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes. [PDF]

Orphanet J Rare Dis
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Vallejo M, Villarreal V, Guardiola MA, Bachiller W, Moreno M, Vargas P, López LJ.   +6 more
europepmc   +2 more sources