2-methylcitric acid has been researched along with Propionic Acidemia in 11 studies
2-methylcitric acid: RN given refers to parent cpd
Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
| 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) |
| "5mEq/kg per day), or ornithine α-ketoglutarate (400mg/kg per day) (anaplerotic agents that could fill up the citric acid cycle) would affect plasma levels of glutamine and ammonia, the urinary excretion of Krebs cycle intermediates, and the clinical outcome in 3 patients with propionic acidemia." | 5.24 | Anaplerotic therapy in propionic acidemia. ( Bailey, C; Cantor, NL; Ernst, SL; Gappmaier, E; Longo, N; Pasquali, M; Price, LB, 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) |
| "Propionate, 3-hydroxypropionate (3HP), methylcitrate, related compounds, and ammonium accumulate in body fluids of patients with disorders of propionyl-CoA metabolism, such as propionic acidemia." | 3.85 | Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism. ( Brunengraber, H; Chapman, KA; Cline, GW; Han, Y; Hess, JP; Tochtrop, GP; Wilson, KA; Zhang, GF; Zhang, M, 2017) |
| "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) |
| "Propionic acidemia is a rare autosomal recessive disorder affecting the catabolism of branched-chain amino acids because of a genetic defect in PCC." | 1.38 | Living-donor liver transplantation for propionic acidemia. ( Fukuda, A; Horikawa, R; Ishige, M; Kakiuchi, T; Kanazawa, H; Karaki, C; Kasahara, M; Kosaki, R; Nagao, M; Naiki, Y; Nakazawa, A; Sakamoto, S; Shigematsu, Y; Shigeta, T; Yorifuji, T, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 8 (72.73) | 24.3611 |
| 2020's | 3 (27.27) | 2.80 |
| Authors | Studies |
|---|---|
| Collado, MS | 2 |
| Armstrong, AJ | 2 |
| Olson, M | 1 |
| Hoang, SA | 2 |
| Day, N | 1 |
| Summar, M | 1 |
| Chapman, KA | 3 |
| 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 |
| Wilson, KA | 1 |
| Han, Y | 1 |
| Zhang, M | 1 |
| Hess, JP | 1 |
| Cline, GW | 1 |
| Tochtrop, GP | 1 |
| Brunengraber, H | 1 |
| Zhang, GF | 1 |
| Longo, N | 1 |
| Price, LB | 1 |
| Gappmaier, E | 1 |
| Cantor, NL | 1 |
| Ernst, SL | 1 |
| Bailey, C | 1 |
| Pasquali, M | 1 |
| Monostori, P | 1 |
| Klinke, G | 1 |
| Richter, S | 1 |
| Baráth, Á | 1 |
| Fingerhut, R | 1 |
| Baumgartner, MR | 1 |
| Kölker, S | 1 |
| Hoffmann, GF | 2 |
| Gramer, G | 1 |
| Okun, JG | 2 |
| Al Dhahouri, N | 1 |
| Langhans, CD | 1 |
| Al Hammadi, Z | 1 |
| Al-Jasmi, F | 1 |
| Al-Dirbashi, OY | 1 |
| Guenzel, AJ | 1 |
| Collard, R | 1 |
| Kraus, JP | 1 |
| Matern, D | 1 |
| Barry, MA | 2 |
| Amaral, AU | 1 |
| Cecatto, C | 1 |
| Castilho, RF | 1 |
| Wajner, M | 1 |
| Chandler, RJ | 1 |
| Chandrasekaran, S | 1 |
| Carrillo-Carrasco, N | 1 |
| Senac, JS | 1 |
| Hofherr, SE | 1 |
| Venditti, CP | 1 |
| Kasahara, M | 1 |
| Sakamoto, S | 1 |
| Kanazawa, H | 1 |
| Karaki, C | 1 |
| Kakiuchi, T | 1 |
| Shigeta, T | 1 |
| Fukuda, A | 1 |
| Kosaki, R | 1 |
| Nakazawa, A | 1 |
| Ishige, M | 1 |
| Nagao, M | 1 |
| Shigematsu, Y | 1 |
| Yorifuji, T | 1 |
| Naiki, Y | 1 |
| Horikawa, R | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia.[NCT00645879] | Phase 1 | 3 participants (Actual) | Interventional | 2008-07-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 trial available for 2-methylcitric acid and Propionic Acidemia
| Article | Year |
|---|---|
Anaplerotic therapy in propionic acidemia.
Topics: Amino Acids; Ammonia; Carbon-Carbon Ligases; Child; Child, Preschool; Citrates; Citric Acid; Citric | 2017 |
10 other studies available for 2-methylcitric acid and Propionic Acidemia
| 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 |
Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.
Topics: Acyl Coenzyme A; Ammonium Compounds; Animals; Carbon Isotopes; Citrates; Citric Acid Cycle; Lactic A | 2017 |
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 |
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 |
Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.
Topics: Animals; Biomarkers; Carnitine; Citrates; Dependovirus; Female; Genetic Therapy; Genetic Vectors; In | 2015 |
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 |
Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.
Topics: Animals; Citrates; Dependovirus; Disease Models, Animal; Gene Transfer Techniques; Genetic Therapy; | 2011 |
Living-donor liver transplantation for propionic acidemia.
Topics: Carnitine; Child, Preschool; Citrates; Female; Humans; Infant; Liver Transplantation; Living Donors; | 2012 |