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Quoted phrase not found in phrase index: "Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"
Page 1
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Becker PH, Demir Z, Mozer Glassberg Y, Sevin C, Habes D, Imbard A, Mussini C, Rozenfeld Bar Lev M, Davit-Spraul A, Benoist JF, Thérond P, Slama A, Jacquemin E, Gonzales E, Gaignard P. Becker PH, et al. Mol Genet Metab. 2021 Jan;132(1):38-43. doi: 10.1016/j.ymgme.2020.11.007. Epub 2020 Nov 28. Mol Genet Metab. 2021. PMID: 33309011
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.
Zhang Z, Wang Y, Ma D, Cheng W, Sun Y, Jiang T. Zhang Z, et al. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):47-52. doi: 10.1515/jpem-2019-0285. J Pediatr Endocrinol Metab. 2020. PMID: 31851615
Background Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary factors, although it could also be caused by administration of the amino acid Met. Among these, the disease caused by methionine adenosyltrans …
Background Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary fa …
Isolated persistent hypermethioninemia.
Mudd SH, Levy HL, Tangerman A, Boujet C, Buist N, Davidson-Mundt A, Hudgins L, Oyanagi K, Nagao M, Wilson WG. Mudd SH, et al. Am J Hum Genet. 1995 Oct;57(4):882-92. Am J Hum Genet. 1995. PMID: 7573050 Free PMC article.
New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in …
New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Bio …
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Furujo M, Kinoshita M, Nagao M, Kubo T. Furujo M, et al. Mol Genet Metab. 2012 Nov;107(3):253-6. doi: 10.1016/j.ymgme.2012.08.002. Epub 2012 Aug 11. Mol Genet Metab. 2012. PMID: 22951388 Review.
Methionine adenosyltransferase I/III (MAT I/III) deficiency, caused by mutations in the MAT1A gene, is an inherited metabolic disorder characterized by persistent hypermethioninemia, usually detected by newborn mass screening. There is a wide range of clinical manifestatio …
Methionine adenosyltransferase I/III (MAT I/III) deficiency, caused by mutations in the MAT1A gene, is an inherited metabolic disorder chara …
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Imbard A, Toumazi A, Magréault S, Garcia-Segarra N, Schlemmer D, Kaguelidou F, Perronneau I, Haignere J, de Baulny HO, Kuster A, Feillet F, Alberti C, Guilmin-Crépon S, Benoist JF, Schiff M. Imbard A, et al. Orphanet J Rare Dis. 2022 Nov 14;17(1):417. doi: 10.1186/s13023-022-02567-4. Orphanet J Rare Dis. 2022. PMID: 36376887 Free PMC article. Clinical Trial.
In contrast, in pnrCBS deficiency, betaine doses higher than 100 mg/kg/day could be harmful to these patients with pre-existing hypermethioninemia. TRIAL REGISTRATION: Clinical Trials, NCT02404337. Registered 23 May 2015-prospectively registered, https://clinicaltrials.gov …
In contrast, in pnrCBS deficiency, betaine doses higher than 100 mg/kg/day could be harmful to these patients with pre-existing hypermeth …
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individu …
MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the …
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ. Barić I, et al. J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. J Inherit Metab Dis. 2017. PMID: 27671891 Free PMC article. Review.
Methylation disorders predominantly affect the liver, central nervous system and muscles, but clinical presentation can vary considerably between and within disorders. Although isolated hypermethioninemia is the biochemical hallmark of this group of disorders, it is not al …
Methylation disorders predominantly affect the liver, central nervous system and muscles, but clinical presentation can vary considerably be …
Ameliorative effect of tannic acid on hypermethioninemia-induced oxidative and nitrosative damage in rats: biochemical-based evidences in liver, kidney, brain, and serum.
de Moraes Meine B, Bona NP, Luduvico KP, de Souza Cardoso J, Spohr L, de Souza AÁ, Spanevello RM, Soares MSP, Stefanello FM. de Moraes Meine B, et al. Amino Acids. 2020 Dec;52(11-12):1545-1558. doi: 10.1007/s00726-020-02913-5. Epub 2020 Nov 13. Amino Acids. 2020. PMID: 33184691
We investigated the ability of tannic acid (TA) to prevent oxidative and nitrosative damage in the brain, liver, kidney, and serum of a rat model of acute hypermethioninemia. Young Wistar rats were divided into four groups: I (control), II (TA 30 mg/kg), III (methionine (M …
We investigated the ability of tannic acid (TA) to prevent oxidative and nitrosative damage in the brain, liver, kidney, and serum of a rat …
Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia.
Hsu JF, Chuang WJ, Shiesh SC, Lin YS, Liu CC, Wang CC, Fu TF, Tsai JH, Tsai WL, Huang YJ, Hsieh YH, Wu JJ, Lin MT, Huang W. Hsu JF, et al. J Infect Dis. 2008 Aug 1;198(3):367-74. doi: 10.1086/589719. J Infect Dis. 2008. PMID: 18522500
SPE B also inactivated AdoHcyase, shown by a decrease in homocysteine, the main product of AdoHcyase. We found that in vivo and in vitro, SPE B induced hypermethioninemia, which is caused by an AdoHcyase defect. We also found that AdoHcyase is a substrate of SPE B cysteine …
SPE B also inactivated AdoHcyase, shown by a decrease in homocysteine, the main product of AdoHcyase. We found that in vivo and in vitro, SP …
22 results