| Synonym |
|---|
| Hepatorenal Tyrosinemia |
| Richner-Hanhart Syndrome |
| Hypertyrosinemia, Type I |
| Hereditary Tyrosinemia, Type II |
| Tyrosinemia, Type III |
| Tyrosinemias, Hereditary |
| Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase |
| Hypertyrosinemia |
| Tyrosinosis, Oculocutaneous Type |
| Tyrosine Transaminase Deficiency Disease |
| Tyrosinemia |
| 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease |
| 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease |
| 4-Hydroxyphenylpyruvate Dioxygenase Deficiency |
| 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency |
| Tyrosine Transaminase Deficiency |
| Keratosis Palmoplantaris with Corneal Dystrophy |
| Tyrosinemia, Type I |
| Tyrosinemia, Type II |
| Oregon Type Tyrosinemia |
| Deficiency Disease, Fumarylacetoacetase |
| Fumarylacetoacetase Deficiency |
| Deficiency Disease, Tyrosine Transaminase |
| Tyrosine Aminotransferase Deficiency |
| Tat Deficiency |
| Fumarylacetoacetase Deficiency Disease |
| Hereditary Tyrosinemias |
| Hereditary Tyrosinemia, Type III |
| Hereditary Tyrosinemia, Type I |
| Tyrosinemia Type 1 |
| Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type |
| Tyrosinemia, Type 2 |
| Excerpt | Reference |
|---|
| "Tyrosinemia is a severe childhood disease that affects the liver and kidneys, but alkaptonuria is a more benign adult disorder in comparison." | ( Al-Dhalimy, M; Finegold, M; Grompe, M; Manning, K, 1999) |
| "Screening for tyrosinemia is not routinely performed worldwide." | ( Anele, E; Becker, D; De Mari, J; Giugliani, R; Lewis, E; Neto, EC; Rubim, R; Schulte, J, 1999) |
| "Tyrosinemia is an inherited autosomal recessive condition." | ( Amir, J; Campino, G; Nussinovitch, M; Shapira, R; Voluvitz, B, 2001) |
| "The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues." | ( Scott, CR, 2006) |
| "Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate." | ( Koekemoer, G; Pretorius, PJ; Steenkamp, A; van Dyk, E, 2010) |
| "Tyrosinemia is an inborn error of metabolism characterized by the accumulation of tyrosine as well as toxic by-products." | ( Aldámiz-Echevarría, L; Andrade, F; Lage, S; Prieto, JA, 2011) |
| "Tyrosinemia type 1 is caused by deficiency of fumarylacetoacetate hydrolase." | ( Boenzi, S; Della Bona, ML; Dionisi-Vici, C; la Marca, G; Malvagia, S; Martinelli, D; Materazzi, S, 2012) |
| "Without treatment, tyrosinemia type 1 is fatal." | ( Arias, C; Cabello, JF; Castro, G; Cornejo, V; de la Parra, A; Fernández, E; Raimann, E, 2012) |
| "Tyrosinemia is a rare genetic disease caused by mutations on genes that codify enzymes responsible for tyrosine metabolism." | ( Bogo, MR; Carvalho-Silva, M; Deroza, PF; Ferreira, GC; Ferreira, GK; Ghedim, FV; Gonçalves, CL; Kist, LW; Oliveira, GM; Pereira, TC; Scaini, G; Schuck, PF; Streck, EL; Vieira, JS; Zugno, AI, 2012) |
| "Although type II tyrosinemia is known to have corneal involvement, the natural course of tyrosinemia type I has not been shown to have corneal involvement." | ( Cavanagh, HD; Gulmez Sevim, D; Gumus, K, 2017) |
| "Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism." | ( Clarke, A; Fraser, H; Freeman, K; Geppert, J; Johnson, S; Stinton, C; Sutcliffe, P; Taylor-Phillips, S, 2017) |
| "Tyrosinemia is a disease of the tyrosine metabolism, affecting mainly liver, kidney and peripheral nerves." | ( Alvarez, F; Mitchell, GA, 2017) |
| "Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy." | ( Belmont-Martínez, L; Fernández-Lainez, C; Guillén-López, S; Ibarra-González, I; Ridaura-Sanz, C; Vela-Amieva, M, 2017) |
| "Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway." | ( Aydogdu, S; Farajov, R; Iakobadze, Z; Karaca, CA; Kilic, M; Yilmaz, C, 2019) |
| "Background Type 1 tyrosinemia is a hereditary metabolic disease in which tyrosine metabolites damage the liver and kidneys." | ( Äärelä, L; Hiltunen, P; Kurppa, K; Nevalainen, PI, 2020) |
| "Hereditary tyrosinemia type 1 is a rare metabolic condition associated with an increased risk of hepatocellular carcinoma." | ( Balouch, F; Bhushan, S; Ee, L; Hodgkinson, P; Lampe, G; Lewindon, P; McGill, J; Noble, C, 2022) |
| Excerpt | Reference |
|---|
| "A murine model for hereditary tyrosinemia Type I (HTI) was evaluated for in vivo gene therapy with adeno-associated viral (AAV) vectors expressing the enzyme fumarylacetoacetate hydrolase." | ( Chen, SJ; Moscioni, AD; Tazelaar, J; Wilson, JM, 2000) |
| "In human patients with hereditary tyrosinemia type I (HT1) a combination therapy of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3 cyclohexane dione (NTBC) and dietary restriction of phenylalanine and tyrosine is currently widely used." | ( Al-Dhalimy, M; Finegold, M; Grompe, M; Overturf, K, 2002) |
| "To describe a patient with hereditary tyrosinemia type I (HHT-I) treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) who developed corneal opacities." | ( Ahmad, S; Lueder, GT; Teckman, JH, 2002) |
| "Medical treatment of tyrosinemia I relies on the herbicide NTBC [Orfadin 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione], an inhibitor of plant and mammalian 2-oxoacid-utilizing dioxygenases with a collective catalytic cycle ('HAG' mechanism)." | ( Hanauske-Abel, HM; Levy, J; Newfield, RS; Popowicz, A; Remotti, H, 2002) |
| "Human hereditary tyrosinemia type I (HT1), caused by mutations in the FAH gene, is an autosomal recessive disorder in which the patient usually dies of liver fibrosis and cirrhosis during early childhood; NTBC treatment is known to prolong HT1 children's lives-although liver fibrosis, cirrhosis, hepatocarcinoma, and corneal opacities sometimes occur." | ( Dalton, TP; Dieter, MZ; Freshwater, SL; Miller, ML; Nebert, DW; Shertzer, HG, 2003) |
| "NTBC treatment fails to normalize the tyrosinemia-induced alterations in expression of transcripts encoding proteins involved in protein turnover, signal transduction, and cell growth and proliferation." | ( Berger, R; Jacobs, SM; Klomp, LW; Koornneef, LP; Luijerink, MC; van Beurden, EA; van den Berg, IE, 2003) |
| "Hepatorenal tyrosinemia (HT1) is considered a treatable inherited metabolic disease, particularly when detected early in life." | ( Al-Ahaidib, LY; Al-Dirbashi, OY; Al-Owain, M; Al-Qahtani, K; Jacob, M; Rahbeeni, Z; Rashed, MS, 2006) |
| "Four patients with tyrosinemia type 1 (ages 6-32 months) were treated with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion (NTBC) at Cairo University Children's Hospital, Egypt and followed up for 12-27 months." | ( Al-Dirbashi, O; El-Hawary, M; El-Karaksy, H; El-Koofy, N; El-Raziky, M; El-Sayed, R; Rashed, M, 2010) |
| "Without treatment, tyrosinemia type 1 is fatal." | ( Arias, C; Cabello, JF; Castro, G; Cornejo, V; de la Parra, A; Fernández, E; Raimann, E, 2012) |
| "Patients with tyrosinemia type I treated with nitisinone are at risk for impaired cognitive function despite a protein-restricted diet." | ( Bendadi, F; de Koning, TJ; de Sain, MG; Prinsen, HC; Sinnema, G; van Hasselt, PM; van Spronsen, FJ; Verhoeven-Duif, N; Visser, G, 2014) |
| "Untreated tyrosinemia type 1 (HT1) is manifested by liver failure associated with renal tubular dysfunction, growth failure, and rickets." | ( Chapchap, P; Feier, FH; Fonseca, EA; Leite, KM; Miura, IK; Porta, A; Porta, G; Pugliese, R; Seda Neto, J, 2014) |
| "Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated." | ( Altay, S; Aydin, A; Cansever, S; Erkan, T; Kiykim, E; Soyucen, E; Zeybek, AC; Zubarioglu, T, 2015) |
| ""Neurologic crisis" of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm." | ( Horoz, ÖÖ; İncecik, F; Kör, D; Öktem, M; Önenli Mungan, N; Sander, J; Yıldızdaş, D, 2016) |
| "We studied a mouse model of tyrosinemia type I to gain insight into the effects of tyrosinemia type I and treatment with NTBC on mouse learning, memory, and behavior." | ( Barnby, E; Coker, SB; Hillgartner, MA; Koenig, AE; MacGregor, GG; Moore, ME, 2016) |
| "Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy." | ( Belmont-Martínez, L; Fernández-Lainez, C; Guillén-López, S; Ibarra-González, I; Ridaura-Sanz, C; Vela-Amieva, M, 2017) |
| "Three patients at our center with tyrosinemia type 1 developed hepatocellular carcinoma 9-13 years after diagnosis despite long-term nitisinone therapy and normalization of AFP." | ( Balouch, F; Bhushan, S; Ee, L; Hodgkinson, P; Lampe, G; Lewindon, P; McGill, J; Noble, C, 2022) |
| "Patients with hereditary tyrosinemia type 1, especially those already cirrhotic at diagnosis, remain at high risk of developing hepatocellular carcinoma despite long-term nitisinone therapy and AFP normalization, and warrant close monitoring and surveillance." | ( Balouch, F; Bhushan, S; Ee, L; Hodgkinson, P; Lampe, G; Lewindon, P; McGill, J; Noble, C, 2022) |
| "The nitisinone-induced hypertyrosinemia can lead to the development of corneal keratopathy, and once it develops, the treatment needs to be interrupted." | ( Havranova, A; Imrich, R; Lukacova, O; Penesova, A; Radikova, Z; Ranganath, L; Sedlakova, J; Vlcek, M; Zanova, E; Zatkova, A, 2023) |