succinylacetone has been researched along with Tyrosinemias in 57 studies
succinylacetone: inhibitor of heme biosynthesis
4,6-dioxoheptanoic acid : A dioxo monocarboxylic acid that is heptanoic acid in which oxo groups replace the hydrogens at positions 4 and 6. It is an abnormal metabolite of the tyrosine metabolic pathway and a marker for type 1 tyrosinaemia.
Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patient 1 was a 5 months and 21 days-old boy who suffered from persistent diarrhea, hepatomegaly, ascites; Alpha-fetoprotein > 1210 µg/L, levels of tyrosine in blood and succinylacetone in urine were 110." | 3.79 | [Mutation analysis of FAH gene in patients with tyrosinemia type 1]. ( Chen, R; Dou, LM; Fang, LJ; Li, LT; Lu, W; Wang, JS; Wang, XH; Zhao, J, 2013) |
| " During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day)." | 3.76 | Maternal and fetal tyrosinemia type I. ( Benoist, JF; Davit-Spraul, A; Garcia Segarra, N; Grenèche, MO; Imbard, A; Ogier de Baulny, H; Roche, S, 2010) |
| "For example, the odds ratio to develop hepatocellular carcinoma is 12." | 2.55 | Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening. ( Das, AM; Janzen, N; Mayorandan, S, 2017) |
| "Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency." | 2.55 | Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update. ( Berthier, MT; Giguère, Y, 2017) |
| "Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy." | 2.55 | Hepatorenal Tyrosinemia in Mexico: A Call to Action. ( Belmont-Martínez, L; Fernández-Lainez, C; Guillén-López, S; Ibarra-González, I; Ridaura-Sanz, C; Vela-Amieva, M, 2017) |
| "Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism." | 2.55 | Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. ( Clarke, A; Fraser, H; Freeman, K; Geppert, J; Johnson, S; Stinton, C; Sutcliffe, P; Taylor-Phillips, S, 2017) |
| "For children with tyrosinemia type I, detection of urine succinylacetone by gas phase mass spectrometry can be negative." | 1.51 | [Clinical and genetic analysis of a patient with tyrosinemia type I but without elevated succinylacetone]. ( Guo, L; Jiao, B; Liu, F, 2019) |
| "Tyrosinemia has rarely been reported from India due to lack of diagnostic facilities." | 1.39 | Tyrosinemia: a report of three cases from India. ( Shah, I, 2013) |
| "Hereditary tyrosinemia type I (HT1) is an autosomal recessive disease caused by a deficiency in human fumarylacetoacetate (FAA) hydrolase (FAH), which is the last enzyme in the catabolic pathway of tyrosine." | 1.39 | Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. ( Bjørås, M; Bliksrud, YT; Ellingsen, A, 2013) |
| "Tyrosinemia type 1 is caused by deficiency of fumarylacetoacetate hydrolase." | 1.38 | LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. ( Boenzi, S; Della Bona, ML; Dionisi-Vici, C; la Marca, G; Malvagia, S; Martinelli, D; Materazzi, S, 2012) |
| "To establish the diagnostic method of tyrosinemia type 1 and evaluate its value, the succinylacetone levels in the blood of suspected patients with tyrosinemia were tested by tandem mass spectrometry, and the succinylacetone in the urine was tested by gas chromatography-mass spectrometry." | 1.38 | [Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1]. ( Gao, XL; Gu, XF; Han, LS; Ji, WJ; Jin, J; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2012) |
| "Newborn screening for tyrosinemia type I (Tyr-I) is mandatory to identify infants at risk before life-threatening symptoms occur." | 1.38 | Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine. ( Gottschalk, A; Herkner, KR; Kasper, DC; Lukačin, R; Mechtler, TP; Merk, M; Metz, TF, 2012) |
| "Hereditary tyrosinemia type I (HT-I) is an autosomal recessive inborn error of tyrosine metabolism, caused by mutation(s) in the gene encoding for fumarylacetoacetate hydrolase (FAH) enzyme." | 1.37 | Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report. ( Jitraruch, S; Leelaudomlipi, S; Sornmayura, P; Sriphojanart, S; Teeraratkul, S; Treepongkaruna, S; Viengteerawat, S; Wattanasirichaigoon, D, 2011) |
| "Succinylacetone was 44 micromol/L (norm <5 micromol/L) and increased within 12 h to 87." | 1.36 | Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. ( Mayatepek, E; Schlump, JU; Spiekerkoetter, U, 2010) |
| "Succinylacetone was undetectable in urine on these doses." | 1.36 | Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough? ( Al-Dirbashi, O; El-Hawary, M; El-Karaksy, H; El-Koofy, N; El-Raziky, M; El-Sayed, R; Rashed, M, 2010) |
| "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." | 1.36 | Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways. ( Koekemoer, G; Pretorius, PJ; Steenkamp, A; van Dyk, E, 2010) |
| "Hereditary tyrosinemia type 1 (HT1; MIM 276700) is caused by mutations in the fumarylaceto-acetate hydrolase (FAH) gene, and is the most severe disorder associated with the tyrosine catabolic pathway." | 1.35 | Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. ( Choi, TY; Ki, CS; Kim, JW; Lee, DH; Lee, YK; Lee, YW; Park, HD, 2009) |
| "Tyrosinaemia type I, or fumarylacetoacetase deficiency, causes hepatorenal damage by accumulation of fumarylacetoacetate." | 1.34 | Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia. ( Ceglarek, U; Janzen, N; Kiess, W; Pfäffle, RW; Thiery, J; Weigel, JF, 2007) |
| "Hepatorenal tyrosinemia (HT1) is considered a treatable inherited metabolic disease, particularly when detected early in life." | 1.33 | Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection. ( Al-Ahaidib, LY; Al-Dirbashi, OY; Al-Owain, M; Al-Qahtani, K; Jacob, M; Rahbeeni, Z; Rashed, MS, 2006) |
| "Succinylacetone (SA) is a specific marker for the inherited metabolic disease, hepatorenal tyrosinemia." | 1.33 | Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. ( Al-Ahaidib, LY; Al-Dirbashi, OY; Al-Hassnan, Z; Al-Sayed, MM; Brink, HJ; Faqeih, E; Filimban, N; Jacob, M; Jakobs, C; Rashed, MS, 2006) |
| "SA is pathognonomic for tyrosinemia type I, a genetic disorder caused by a reduced activity of fumarylacetoacetate hydrolase (FAH)." | 1.33 | A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I. ( Cyr, D; Drouin, R; Giguère, R; Lemieux, B; Villain, G, 2006) |
| "Succinylacetone was extracted from blood spots that had already been extracted with absolute methanol for acylcarnitine and amino acid analysis." | 1.33 | Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. ( Das, AM; Holtkamp, U; Janzen, N; Mayatepek, E; Peter, M; Sander, J; Sander, S; Schwahn, B; Steuerwald, U; Trefz, FK, 2006) |
| "Succinylacetone (SUAC) is a specific marker for TYR 1 but not detectable by routine newborn screening." | 1.33 | Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. ( Goodman, SI; Gunawardena, ND; Hahn, SH; Magera, MJ; Matern, D; Mitchell, GA; Rinaldo, P; Tortorelli, S, 2006) |
| "Hereditary tyrosinemia type I (HT1) is an inborn metabolic error characterized by hepatorenal dysfunction." | 1.32 | Succinylacetone oxidation by oxygen/peroxynitrite: a possible source of reactive intermediates in hereditary tyrosinemia type I. ( Bechara, EJ; de Oliveira, MA; Knudsen, FS; Royer, LO; Tavares, MF, 2004) |
| "Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that disrupt tyrosine catabolism." | 1.31 | Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. ( Aponte, JL; Carpenter, DA; Culiat, CT; Dhar, MS; Hauser, LJ; Johnson, DK; Rinchik, EM; Sega, GA; Withrow, CM, 2001) |
| "Hereditary tyrosinemia type I (HT) fulfills the criteria for inclusion in neonatal screening programs, but measurement of tyrosine lacks clinical specificity and quantitative assay of succinylacetone is laborious." | 1.31 | Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. ( Frommhold, D; Hoffmann, GF; Mayatepek, E; Schulze, A, 2001) |
| "Tyrosinemia is an inherited autosomal recessive condition." | 1.31 | [Liver failure with coagulopathy in an infant with tyrosinemia]. ( Amir, J; Campino, G; Nussinovitch, M; Shapira, R; Voluvitz, B, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 24 (42.11) | 29.6817 |
| 2010's | 32 (56.14) | 24.3611 |
| 2020's | 1 (1.75) | 2.80 |
| Authors | Studies |
|---|---|
| van Ginkel, WG | 1 |
| van Reemst, HE | 1 |
| Kienstra, NS | 1 |
| Daly, A | 1 |
| Rodenburg, IL | 1 |
| MacDonald, A | 1 |
| Burgerhof, JGM | 1 |
| de Blaauw, P | 1 |
| van de Krogt, J | 1 |
| Santra, S | 1 |
| Heiner-Fokkema, MR | 1 |
| van Spronsen, FJ | 2 |
| Schultz, MJ | 1 |
| Netzel, BC | 1 |
| Singh, RH | 1 |
| Pino, GB | 1 |
| Gavrilov, DK | 2 |
| Oglesbee, D | 3 |
| Raymond, KM | 1 |
| Rinaldo, P | 3 |
| Tortorelli, S | 4 |
| Smith, WE | 1 |
| Matern, D | 3 |
| Taylor-Phillips, S | 2 |
| Geppert, J | 2 |
| Stinton, C | 2 |
| Freeman, K | 2 |
| Johnson, S | 2 |
| Fraser, H | 2 |
| Sutcliffe, P | 2 |
| Clarke, A | 2 |
| Das, AM | 2 |
| Mayorandan, S | 1 |
| Janzen, N | 3 |
| Giguère, Y | 1 |
| Berthier, MT | 1 |
| Ibarra-González, I | 1 |
| Ridaura-Sanz, C | 1 |
| Fernández-Lainez, C | 1 |
| Guillén-López, S | 1 |
| Belmont-Martínez, L | 1 |
| Vela-Amieva, M | 1 |
| Alvarez, F | 1 |
| Atkinson, S | 1 |
| Bouchard, M | 1 |
| Brunel-Guitton, C | 1 |
| Buhas, D | 1 |
| Bussières, JF | 1 |
| Dubois, J | 1 |
| Fenyves, D | 1 |
| Goodyer, P | 1 |
| Gosselin, M | 1 |
| Halac, U | 1 |
| Labbé, P | 1 |
| Laframboise, R | 1 |
| Maranda, B | 1 |
| Melançon, S | 1 |
| Merouani, A | 1 |
| Mitchell, GA | 2 |
| Mitchell, J | 1 |
| Parizeault, G | 1 |
| Pelletier, L | 1 |
| Phan, V | 1 |
| Turcotte, JF | 1 |
| Sundberg, J | 1 |
| Wibrand, F | 1 |
| Lund, AM | 1 |
| Christensen, M | 1 |
| Guo, L | 1 |
| Jiao, B | 1 |
| Liu, F | 1 |
| Shah, I | 1 |
| Zytkovicz, TH | 2 |
| Sahai, I | 1 |
| Rush, A | 1 |
| Odewale, A | 1 |
| Johnson, D | 1 |
| Fitzgerald, E | 1 |
| Britton, D | 1 |
| Eaton, RB | 1 |
| Dou, LM | 1 |
| Fang, LJ | 1 |
| Wang, XH | 1 |
| Lu, W | 1 |
| Chen, R | 1 |
| Li, LT | 1 |
| Zhao, J | 1 |
| Wang, JS | 1 |
| Mohamed, S | 1 |
| Kambal, MA | 1 |
| Al Jurayyan, NA | 1 |
| Al-Nemri, A | 1 |
| Babiker, A | 1 |
| Hasanato, R | 1 |
| Al-Jarallah, AS | 1 |
| Blackburn, PR | 1 |
| Hickey, RD | 1 |
| Nace, RA | 1 |
| Giama, NH | 1 |
| Kraft, DL | 1 |
| Bordner, AJ | 1 |
| Chaiteerakij, R | 1 |
| McCormick, JB | 1 |
| Radulovic, M | 1 |
| Graham, RP | 1 |
| Torbenson, MS | 1 |
| Scott, CR | 1 |
| Lindor, NM | 1 |
| Milliner, DS | 1 |
| Al-Qabandi, W | 1 |
| Grompe, M | 1 |
| El-Youssef, M | 1 |
| Clark, KJ | 1 |
| Atwal, PS | 1 |
| Roberts, LR | 1 |
| Klee, EW | 1 |
| Ekker, SC | 1 |
| Peake, RW | 1 |
| Mannion, MA | 1 |
| Smith, A | 1 |
| Mayne, P | 1 |
| Monavari, AA | 1 |
| Al-Dirbashi, OY | 5 |
| Rashed, MS | 4 |
| Jacob, M | 3 |
| Al-Ahaideb, LY | 1 |
| Al-Amoudi, M | 1 |
| Rahbeeni, Z | 3 |
| Al-Sayed, MM | 3 |
| Al-Hassnan, Z | 3 |
| Al-Owain, M | 3 |
| Al-Zeidan, H | 1 |
| Park, HD | 1 |
| Lee, DH | 1 |
| Choi, TY | 1 |
| Lee, YK | 1 |
| Kim, JW | 1 |
| Ki, CS | 1 |
| Lee, YW | 1 |
| Schlump, JU | 1 |
| Mayatepek, E | 3 |
| Spiekerkoetter, U | 2 |
| Fisher, L | 1 |
| McRoberts, C | 1 |
| Siriwardena, K | 1 |
| Geraghty, M | 1 |
| Chakraborty, P | 1 |
| Adam, BW | 1 |
| Lim, TH | 1 |
| Hall, EM | 1 |
| Hannon, WH | 1 |
| El-Karaksy, H | 1 |
| Rashed, M | 1 |
| El-Sayed, R | 1 |
| El-Raziky, M | 1 |
| El-Koofy, N | 1 |
| El-Hawary, M | 1 |
| Al-Dirbashi, O | 1 |
| la Marca, G | 3 |
| Malvagia, S | 3 |
| Funghini, S | 1 |
| Pasquini, E | 2 |
| Moneti, G | 1 |
| Guerrini, R | 1 |
| Zammarchi, E | 2 |
| Cassiman, D | 1 |
| Zeevaert, R | 1 |
| Holme, E | 2 |
| Kvittingen, EA | 1 |
| Jaeken, J | 1 |
| Wentzel, JF | 1 |
| Gouws, C | 1 |
| Huysamen, C | 1 |
| Dyk, Ev | 1 |
| Koekemoer, G | 2 |
| Pretorius, PJ | 2 |
| van Dyk, E | 1 |
| Steenkamp, A | 1 |
| Dhillon, KS | 1 |
| Bhandal, AS | 1 |
| Aznar, CP | 1 |
| Lorey, FW | 1 |
| Neogi, P | 1 |
| Morrissey, MA | 1 |
| Sunny, S | 1 |
| Fahim, A | 1 |
| Lubowski, C | 1 |
| Caggana, M | 1 |
| Jitraruch, S | 1 |
| Treepongkaruna, S | 1 |
| Teeraratkul, S | 1 |
| Wattanasirichaigoon, D | 1 |
| Leelaudomlipi, S | 1 |
| Sornmayura, P | 1 |
| Viengteerawat, S | 1 |
| Sriphojanart, S | 1 |
| Materazzi, S | 1 |
| Della Bona, ML | 1 |
| Boenzi, S | 1 |
| Martinelli, D | 1 |
| Dionisi-Vici, C | 1 |
| Schlune, A | 1 |
| Thimm, E | 1 |
| Herebian, D | 1 |
| Han, LS | 1 |
| Ye, J | 1 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Wang, Y | 1 |
| Ji, WJ | 1 |
| Gao, XL | 1 |
| Li, XY | 1 |
| Jin, J | 1 |
| Gu, XF | 1 |
| Bartlett, DC | 1 |
| Preece, MA | 1 |
| Lloyd, C | 1 |
| Newsome, PN | 1 |
| McKiernan, PJ | 1 |
| Metz, TF | 1 |
| Mechtler, TP | 1 |
| Merk, M | 1 |
| Gottschalk, A | 1 |
| Lukačin, R | 1 |
| Herkner, KR | 1 |
| Kasper, DC | 1 |
| Peng, M | 1 |
| Liu, L | 1 |
| Peng, L | 1 |
| Bliksrud, YT | 1 |
| Ellingsen, A | 1 |
| Bjørås, M | 1 |
| Garcia Segarra, N | 1 |
| Roche, S | 1 |
| Imbard, A | 1 |
| Benoist, JF | 1 |
| Grenèche, MO | 1 |
| Davit-Spraul, A | 1 |
| Ogier de Baulny, H | 1 |
| Royer, LO | 1 |
| Knudsen, FS | 1 |
| de Oliveira, MA | 1 |
| Tavares, MF | 1 |
| Bechara, EJ | 1 |
| Allard, P | 2 |
| Grenier, A | 1 |
| Korson, MS | 1 |
| Cansever, MS | 1 |
| Erim, FB | 1 |
| Al-Ahaidib, LY | 3 |
| Al Amoudi, M | 1 |
| Al-Dbaas, A | 1 |
| Ni Luanaigh, M | 1 |
| Al-Qahtani, K | 1 |
| Brink, HJ | 1 |
| Jakobs, C | 1 |
| Filimban, N | 1 |
| Faqeih, E | 1 |
| Cyr, D | 1 |
| Giguère, R | 1 |
| Villain, G | 1 |
| Lemieux, B | 1 |
| Drouin, R | 1 |
| Pierik, LJ | 1 |
| Bijleveld, CM | 1 |
| van Dael, CM | 1 |
| Sander, J | 1 |
| Peter, M | 1 |
| Sander, S | 1 |
| Steuerwald, U | 1 |
| Holtkamp, U | 1 |
| Schwahn, B | 1 |
| Trefz, FK | 1 |
| Magera, MJ | 2 |
| Gunawardena, ND | 1 |
| Hahn, SH | 1 |
| Goodman, SI | 1 |
| Johnson, DW | 1 |
| Gerace, R | 1 |
| Ranieri, E | 1 |
| Trinh, MU | 1 |
| Fingerhut, R | 1 |
| Weigel, JF | 1 |
| Pfäffle, RW | 1 |
| Thiery, J | 1 |
| Kiess, W | 1 |
| Ceglarek, U | 1 |
| Innocenti, M | 1 |
| Fernandez, MR | 1 |
| Donati, MA | 1 |
| Turgeon, C | 1 |
| Gavrilov, D | 1 |
| Raymond, K | 1 |
| Pass, KA | 1 |
| Morrissey, M | 1 |
| Aponte, JL | 1 |
| Sega, GA | 1 |
| Hauser, LJ | 1 |
| Dhar, MS | 1 |
| Withrow, CM | 1 |
| Carpenter, DA | 1 |
| Rinchik, EM | 1 |
| Culiat, CT | 1 |
| Johnson, DK | 1 |
| Schulze, A | 1 |
| Frommhold, D | 1 |
| Hoffmann, GF | 1 |
| Nussinovitch, M | 1 |
| Campino, G | 1 |
| Shapira, R | 1 |
| Voluvitz, B | 1 |
| Amir, J | 1 |
| Erskine, PT | 1 |
| Newbold, R | 1 |
| Brindley, AA | 1 |
| Wood, SP | 1 |
| Shoolingin-Jordan, PM | 1 |
| Warren, MJ | 1 |
| Cooper, JB | 1 |
5 reviews available for succinylacetone and Tyrosinemias
| Article | Year |
|---|---|
Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening.
Topics: Carcinoma, Hepatocellular; Europe; Heptanoates; Humans; Infant, Newborn; Liver Neoplasms; Neonatal S | 2017 |
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Topics: Alleles; Heptanoates; Humans; Infant, Newborn; Mutation; Neonatal Screening; Quebec; Tyrosine; Tyros | 2017 |
Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Topics: Heptanoates; Humans; Infant, Newborn; Mexico; Neonatal Screening; Tandem Mass Spectrometry; Tyrosine | 2017 |
The Québec NTBC Study.
Topics: Cyclohexanones; Enzyme Inhibitors; Heptanoates; Humans; Infant, Newborn; Liver Diseases; Liver Trans | 2017 |
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Topics: Heptanoates; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spe | 2017 |
52 other studies available for succinylacetone and Tyrosinemias
| Article | Year |
|---|---|
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
Topics: Adolescent; Adult; Child; Cyclohexanones; Dietary Supplements; Enzyme Inhibitors; Female; Heptanoate | 2019 |
Laboratory monitoring of patients with hereditary tyrosinemia type I.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acids; Biomarkers; Case-Control Studies; Child; Ch | 2020 |
Comparison of a full systematic review versus rapid review approaches to assess a newborn screening test for tyrosinemia type 1.
Topics: Cost-Benefit Analysis; Decision Making; Evidence-Based Medicine; Health Policy; Heptanoates; Humans; | 2017 |
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.
Topics: Chromatography, Liquid; Cyclohexanones; Drug Monitoring; Heptanoates; Humans; Linear Models; Nitrobe | 2018 |
[Clinical and genetic analysis of a patient with tyrosinemia type I but without elevated succinylacetone].
Topics: DNA Mutational Analysis; Female; Genetic Testing; Heptanoates; Humans; Male; Tyrosinemias | 2019 |
Tyrosinemia: a report of three cases from India.
Topics: alpha-Fetoproteins; Child, Preschool; Chronic Disease; Female; Hepatomegaly; Heptanoates; Humans; In | 2013 |
Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.
Topics: Chromatography, Liquid; Heptanoates; Humans; Infant; Infant, Newborn; Neonatal Screening; Tandem Mas | 2013 |
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Topics: alpha-Fetoproteins; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Diarrhea; DNA Mutat | 2013 |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
Topics: Cardiomyopathy, Hypertrophic; Cyclohexanones; Food, Formulated; Heptanoates; Homozygote; Humans; Hyd | 2013 |
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Topics: Adolescent; Animals; Carcinoma, Hepatocellular; Catalytic Domain; Cell Line, Tumor; Child; Child, Pr | 2016 |
Deranged Liver Function in a Neonate.
Topics: Biomarkers; Cyclohexanones; Enzyme Inhibitors; Female; Gas Chromatography-Mass Spectrometry; Heptano | 2016 |
Type 1 Tyrosinaemia.
Topics: Biomarkers; Cyclohexanones; Enzyme Inhibitors; Heptanoates; Humans; Hydrolases; Hypoglycemia; Irelan | 2016 |
Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
Topics: Chromatography, High Pressure Liquid; Heptanoates; Humans; Linear Models; Spectrometry, Mass, Electr | 2008 |
Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
Topics: Exons; Female; Heptanoates; Humans; Hydrolases; Infant, Newborn; Introns; Phenylpropionates; Phenylp | 2009 |
Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
Topics: Age Factors; alpha-Fetoproteins; Female; Fetal Blood; Heptanoates; Humans; Infant, Newborn; Prenatal | 2010 |
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.
Topics: Amino Acids; Carnitine; Heptanoates; Humans; Infant, Newborn; Kidney Diseases; Liver Diseases; Neona | 2010 |
Preliminary proficiency testing results for succinylacetone in dried blood spots for newborn screening for tyrosinemia type I.
Topics: Blood Specimen Collection; Heptanoates; Humans; Infant, Newborn; Laboratories; Neonatal Screening; P | 2009 |
Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?
Topics: Child, Preschool; Cost-Benefit Analysis; Cyclohexanones; Dose-Response Relationship, Drug; Drug Cost | 2010 |
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
Topics: Biomarkers; Chromatography, High Pressure Liquid; Heptanoates; Humans; Infant, Newborn; Italy; Neona | 2009 |
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Topics: Child; Fibroblasts; Heptanoates; Humans; Hydrolases; Liver; Male; Mutation; Polymerase Chain Reactio | 2009 |
Assessing the DNA methylation status of single cells with the comet assay.
Topics: Azacitidine; Comet Assay; Cytosine; Deoxyribonuclease HpaII; DNA Methylation; DNA-Cytosine Methylase | 2010 |
Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways.
Topics: Cell Line; Comet Assay; DNA Repair; Heptanoates; Humans; Hydrogen Peroxide; Phenylpyruvic Acids; Tyr | 2010 |
Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process.
Topics: Amino Acids; Carnitine; Chemical Fractionation; Cost-Benefit Analysis; Heptanoates; Humans; Hydrazon | 2011 |
Newborn screening for Tyr-I: two years' experience of the New York State program.
Topics: Heptanoates; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; New York; Tyrosinemias | 2011 |
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.
Topics: Asian People; Diet Therapy; Heptanoates; Humans; Hydrolases; Infant; Liver Failure; Liver Transplant | 2011 |
LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Biomarkers; Child; Child, Preschool; Chromatography | 2012 |
Single dose NTBC-treatment of hereditary tyrosinemia type I.
Topics: Cyclohexanones; Drug Administration Schedule; Female; Heptanoates; Humans; Infant; Infant, Newborn; | 2012 |
[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].
Topics: Adolescent; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Huma | 2012 |
Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.
Topics: Adolescent; Child; Child, Preschool; Cyclohexanones; Heptanoates; Humans; Infant; Liver Transplantat | 2013 |
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.
Topics: Dried Blood Spot Testing; Heptanoates; Humans; Hydrazines; Infant, Newborn; Mass Spectrometry; Metab | 2012 |
Evaluation of factors influencing accuracy in the analysis of succinylacetone in dried blood spots.
Topics: Blood Volume; Chromatography, Liquid; Dried Blood Spot Testing; Hematocrit; Heptanoates; Humans; Rep | 2012 |
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.
Topics: Acetoacetates; Deoxyribonuclease (Pyrimidine Dimer); DNA; DNA Glycosylases; DNA Repair; DNA-(Apurini | 2013 |
Maternal and fetal tyrosinemia type I.
Topics: Biomarkers; Child Development; Consanguinity; Cyclohexanones; Diet, Protein-Restricted; DNA Mutation | 2010 |
Succinylacetone oxidation by oxygen/peroxynitrite: a possible source of reactive intermediates in hereditary tyrosinemia type I.
Topics: Cytochromes; Electrophoresis, Capillary; Free Radicals; Hemoglobins; Heptanoates; Humans; Hydrogen P | 2004 |
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
Topics: Heptanoates; Humans; Infant, Newborn; Kidney; Liver; Mass Spectrometry; Neonatal Screening; Tyrosine | 2004 |
Determination of urinary succinylacetone by capillary electrophoresis for the diagnosis of tyrosinemia type I.
Topics: Electrophoresis, Capillary; Heptanoates; Humans; Reproducibility of Results; Tyrosinemias | 2005 |
Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.
Topics: Adolescent; Adult; Child; Child, Preschool; Cyclohexanones; Enzyme Inhibitors; Heptanoates; Humans; | 2005 |
Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.
Topics: Calibration; Chromatography, High Pressure Liquid; Heptanoates; Humans; Kidney Diseases; Liver Disea | 2006 |
Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.
Topics: Chromatography, High Pressure Liquid; Dansyl Compounds; Heptanoates; Humans; Hydrazines; Infant, New | 2006 |
A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I.
Topics: Amniotic Fluid; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Monitoring, Physiologic; | 2006 |
Renal function in tyrosinaemia type I after liver transplantation: a long-term follow-up.
Topics: Adolescent; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Glomerular Filt | 2005 |
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.
Topics: Blood Specimen Collection; Female; Heptanoates; Humans; Infant, Newborn; Male; Mass Spectrometry; Ne | 2006 |
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Topics: Algorithms; Chromatography, Liquid; Heptanoates; Humans; Infant, Newborn; Neonatal Screening; Reprod | 2006 |
Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.
Topics: Betaine; Child; Erythrocytes; Flow Injection Analysis; Heptanoates; Humans; Indicators and Reagents; | 2007 |
Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.
Topics: Blood Chemical Analysis; Blood Specimen Collection; Female; Heptanoates; Humans; Infant; Infant, New | 2007 |
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
Topics: Biomarkers; Blood Chemical Analysis; Chromatography, High Pressure Liquid; Female; Heptanoates; Huma | 2008 |
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
Topics: Amino Acids; Blood Specimen Collection; Carnitine; Flow Injection Analysis; Heptanoates; Humans; Inf | 2008 |
Enhancing newborn screening for tyrosinemia type I.
Topics: Amino Acids; Carnitine; Heptanoates; Humans; Infant, Newborn; Neonatal Screening; Tyrosinemias | 2008 |
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
Topics: Acute Disease; Alleles; Amino Acid Substitution; Animals; Animals, Newborn; Base Sequence; Biomarker | 2001 |
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.
Topics: Blood Specimen Collection; Heptanoates; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screeni | 2001 |
[Liver failure with coagulopathy in an infant with tyrosinemia].
Topics: Biomarkers; Disseminated Intravascular Coagulation; Heptanoates; Humans; Infant; Liver Failure; Male | 2001 |
The x-ray structure of yeast 5-aminolaevulinic acid dehydratase complexed with substrate and three inhibitors.
Topics: Aminolevulinic Acid; Binding, Competitive; Catalytic Domain; Crystallography, X-Ray; Enzyme Inhibito | 2001 |