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Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), …
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z, Nabavizadeh S, Karimzadeh S, Geramizadeh B. Beyzaei Z, et al. Orphanet J Rare Dis. 2022 Dec 5;17(1):424. doi: 10.1186/s13023-022-02579-0. Orphanet J Rare Dis. 2022. PMID: 36471409 Free PMC article. Review.
BACKGROUND: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvat …
BACKGROUND: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II …
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its m …
BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disor …
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Gokay S, Kendirci M, Ustkoyuncu PS, Kardas F, Bayram AK, Per H, Poyrazoğlu HG. Gokay S, et al. Pediatr Int. 2016 Oct;58(10):1069-1072. doi: 10.1111/ped.13062. Epub 2016 Sep 4. Pediatr Int. 2016. PMID: 27285949
Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). ...Cognitive function of the patient worsened steadily, but his asymptomatic sister maintained normal mental status. Tyrosinemia type …
Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). ... …
Tyrosine aminotransferase: biochemical and structural properties and molecular dynamics simulations.
Mehere P, Han Q, Lemkul JA, Vavricka CJ, Robinson H, Bevan DR, Li J. Mehere P, et al. Protein Cell. 2010 Nov;1(11):1023-32. doi: 10.1007/s13238-010-0128-5. Epub 2010 Dec 10. Protein Cell. 2010. PMID: 21153519 Free PMC article.
Tyrosine aminotransferase (TAT) catalyzes the transamination of tyrosine and other aromatic amino acids. The enzyme is thought to play a role in tyrosinemia type II, hepatitis and hepatic carcinoma recovery. The objective of this study is to investigate its b …
Tyrosine aminotransferase (TAT) catalyzes the transamination of tyrosine and other aromatic amino acids. The enzyme is thought to play a rol …
Tyrosine inhibits creatine kinase activity in cerebral cortex of young rats.
de Andrade RB, Gemelli T, Rojas DB, Funchal C, Dutra-Filho CS, Wannmacher CM. de Andrade RB, et al. Metab Brain Dis. 2011 Sep;26(3):221-7. doi: 10.1007/s11011-011-9255-9. Epub 2011 Jul 26. Metab Brain Dis. 2011. PMID: 21789565
Tyrosine accumulates in inborn errors of tyrosine catabolism, especially in tyrosinemia type II, where tyrosine levels are highly elevated in tissues and physiological fluids of affected patients. Tyrosinemia type II is a disorder of auto …
Tyrosine accumulates in inborn errors of tyrosine catabolism, especially in tyrosinemia type II, where tyrosine levels …
Tyrosinemia type II: a challenge for ophthalmologists and dermatologists.
Benoldi D, Orsoni JB, Allegra F. Benoldi D, et al. Pediatr Dermatol. 1997 Mar-Apr;14(2):110-2. doi: 10.1111/j.1525-1470.1997.tb00215.x. Pediatr Dermatol. 1997. PMID: 9144695
Tyrosinemia type II was suspected in a 13-month-old child with recurrent photophobia, tearing, and hyperkeratotic lesions on the palms and soles. ...
Tyrosinemia type II was suspected in a 13-month-old child with recurrent photophobia, tearing, and hyperkeratotic lesio …
Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.
de Andrade RB, Gemelli T, Rojas DB, Funchal C, Dutra-Filho CS, Wannmacher CM. de Andrade RB, et al. Mol Cell Biochem. 2012 May;364(1-2):253-61. doi: 10.1007/s11010-012-1225-y. Epub 2012 Feb 5. Mol Cell Biochem. 2012. PMID: 22311600
Tyrosine levels are abnormally elevated in tissues and physiological fluids of patients with inborn errors of tyrosine catabolism, especially in tyrosinemia type II, which is caused by deficiency of tyrosine aminotransferase and provokes eyes, skin, and centr …
Tyrosine levels are abnormally elevated in tissues and physiological fluids of patients with inborn errors of tyrosine catabolism, especiall …
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S. Bouyacoub Y, et al. Gene. 2013 Oct 15;529(1):45-9. doi: 10.1016/j.gene.2013.07.066. Epub 2013 Aug 13. Gene. 2013. PMID: 23954227
Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare autosomal recessive disorder. ...
Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare au …
Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.
Jakobs C, Sweetman L, Nyhan WL. Jakobs C, et al. Prenat Diagn. 1984 May-Jun;4(3):187-94. doi: 10.1002/pd.1970040305. Prenat Diagn. 1984. PMID: 6463026
The concentration of 4-hydroxyphenyllactic acid in normal amniotic fluid was 1.97 +/- 0.75 (S.D.) mumol/l while succinylacetone was undetectable. A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4-hydroxyphenyllactic acid was wi …
The concentration of 4-hydroxyphenyllactic acid in normal amniotic fluid was 1.97 +/- 0.75 (S.D.) mumol/l while succinylacetone was undetect …