2-methylcitric acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 16 studies
2-methylcitric acid: RN given refers to parent cpd
| Excerpt | Relevance | Reference |
|---|---|---|
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 7.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 7.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively." | 3.96 | Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. ( Armstrong, AJ; Chapman, KA; Collado, MS; Day, N; Figler, RA; Hoang, SA; Olson, M; Reardon, J; Summar, M; Wamhoff, BR, 2020) |
| " We prospectively evaluated plasma MCA and its relationship with disease biomarkers, clinical status, and disease burden in 22 patients, 13 with propionic acidemia (PA) and nine with methylmalonic acidemia (MMA) on standard treatment and/or after transplantation." | 3.96 | Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia. ( Boenzi, S; Candusso, M; Catesini, G; Dello Strologo, L; Dionisi-Vici, C; Liguori, A; Maines, E; Maiorana, A; Martinelli, D; Mosca, A; Olivieri, G; Piemonte, F; Rizzo, C; Spada, M; Taurisano, R, 2020) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 3.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Accumulation of 2-methylcitric acid (2MCA) is observed in methylmalonic and propionic acidemias, which are clinically characterized by severe neurological symptoms." | 3.83 | 2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria. ( Amaral, AU; Castilho, RF; Cecatto, C; Wajner, M, 2016) |
| " A dose-response relationship was observed for all effects." | 1.43 | Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. ( Ballhausen, D; Braissant, O; Cudré-Cung, HP; do Vale-Pereira, S; Henry, H; Ivanisevic, J; Remacle, N; Tavel, D; Zavadakova, P, 2016) |
| "Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids." | 1.39 | Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures. ( Ballhausen, D; Bonafé, L; Braissant, O; Henry, H; Jafari, P; Zavadakova, P, 2013) |
| "Methylmalonic aciduria is a human autosomal recessive disorder of organic acid metabolism resulting from a functional defect in the activity of the enzyme methylmalonyl-CoA mutase." | 1.32 | A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. ( Fowler, KJ; Gazeas, S; Ioannou, PA; Kahler, SG; Nefedov, M; Peters, H; Pitt, J; Sarsero, J, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (12.50) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (18.75) | 29.6817 |
| 2010's | 8 (50.00) | 24.3611 |
| 2020's | 3 (18.75) | 2.80 |
| Authors | Studies |
|---|---|
| Collado, MS | 2 |
| Armstrong, AJ | 2 |
| Olson, M | 1 |
| Hoang, SA | 2 |
| Day, N | 1 |
| Summar, M | 1 |
| Chapman, KA | 2 |
| Reardon, J | 1 |
| Figler, RA | 2 |
| Wamhoff, BR | 2 |
| Maines, E | 1 |
| Catesini, G | 1 |
| Boenzi, S | 1 |
| Mosca, A | 1 |
| Candusso, M | 1 |
| Dello Strologo, L | 1 |
| Martinelli, D | 1 |
| Maiorana, A | 1 |
| Liguori, A | 1 |
| Olivieri, G | 1 |
| Taurisano, R | 1 |
| Piemonte, F | 1 |
| Rizzo, C | 1 |
| Spada, M | 1 |
| Dionisi-Vici, C | 1 |
| Henke, BR | 1 |
| Olson, MW | 1 |
| Hamilton, CA | 1 |
| Pourtaheri, TD | 1 |
| Summar, MM | 1 |
| Johns, BA | 1 |
| Reardon, JE | 1 |
| Monostori, P | 1 |
| Klinke, G | 1 |
| Richter, S | 1 |
| Baráth, Á | 1 |
| Fingerhut, R | 1 |
| Baumgartner, MR | 1 |
| Kölker, S | 2 |
| Hoffmann, GF | 3 |
| Gramer, G | 1 |
| Okun, JG | 3 |
| Majid, H | 1 |
| Jafri, L | 1 |
| Khan, AH | 1 |
| Ali, ZZ | 1 |
| Jamil, A | 1 |
| Yusufzai, N | 1 |
| Fatimah, M | 1 |
| Afroze, B | 1 |
| Al Dhahouri, N | 1 |
| Langhans, CD | 1 |
| Al Hammadi, Z | 1 |
| Al-Jasmi, F | 1 |
| Al-Dirbashi, OY | 2 |
| Imataka, G | 1 |
| Sakamoto, O | 1 |
| Yamanouchi, H | 1 |
| Yoshihara, S | 1 |
| Omura-Hasegawa, Y | 1 |
| Tajima, G | 1 |
| Arisaka, O | 1 |
| Amaral, AU | 1 |
| Cecatto, C | 1 |
| Castilho, RF | 1 |
| Wajner, M | 1 |
| McIntosh, N | 1 |
| Chakraborty, P | 1 |
| Cudré-Cung, HP | 1 |
| Zavadakova, P | 2 |
| do Vale-Pereira, S | 1 |
| Remacle, N | 1 |
| Henry, H | 2 |
| Ivanisevic, J | 1 |
| Tavel, D | 1 |
| Braissant, O | 2 |
| Ballhausen, D | 2 |
| Jafari, P | 1 |
| Bonafé, L | 1 |
| Schwab, M | 1 |
| Hörster, F | 1 |
| Sauer, S | 1 |
| Hinz, A | 1 |
| Wolf, NI | 1 |
| Mayatepek, E | 1 |
| Smeitink, JA | 1 |
| Peters, H | 1 |
| Nefedov, M | 1 |
| Sarsero, J | 1 |
| Pitt, J | 1 |
| Fowler, KJ | 1 |
| Gazeas, S | 1 |
| Kahler, SG | 1 |
| Ioannou, PA | 1 |
| Inoue, Y | 1 |
| Ohse, M | 1 |
| Shinka, T | 1 |
| Kuhara, T | 1 |
| Dhondt, JL | 1 |
| Farriaux, JP | 1 |
| Amedee Manesme, O | 1 |
| Cartigny, B | 1 |
| Sweetman, L | 1 |
| Duran, M | 1 |
| Kretschmer, RE | 1 |
| Bachmann, C | 1 |
16 other studies available for 2-methylcitric acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Case-Control Studies; Cells, Cultured; Citrates; | 2020 |
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Citrates; Fem | 2020 |
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Cell Line; Citrates; Hepatocytes; | 2021 |
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; Fe | 2017 |
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; | 2018 |
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Humans; Propionic Acidemia; | 2018 |
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carnitine; Citrates; Exons; Female; Humans; Inf | 2013 |
2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria.
Topics: Adenosine Diphosphate; Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Animals; Brain; | 2016 |
Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
Topics: Acetylcarnitine; Algorithms; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Chromatogr | 2017 |
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.
Topics: Amino Acid Chloromethyl Ketones; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Animals; | 2016 |
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Blotting, Western; Brain; Caspase 3; Cells | 2013 |
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.
Topics: Acyl Coenzyme A; Adenosine Triphosphate; Aging; Amino Acid Metabolism, Inborn Errors; Animals; Cattl | 2003 |
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
Topics: Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Southern; Carn | 2003 |
Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Citrates; Gas Chromatography-Mass Spectrometry | 2008 |
Antenatal diagnosis of propionic acidaemia by methylcitrate determination.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carbon-Carbon Ligases; Citrates; Female; Human | 1981 |
Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Citrates; Female; Gas Chromatography-Mass Spec | 1988 |