Page last updated: 2024-10-17

2-methylcitric acid and Propionic Acidemia

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.

Research Excerpts

ExcerptRelevanceReference
"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."7.96Biochemical 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)."7.85Simultaneous 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."5.24Anaplerotic 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."3.96Biochemical 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."3.96Plasma 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."3.85Inter-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)."3.85Simultaneous 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."3.832-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."1.38Living-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)

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's8 (72.73)24.3611
2020's3 (27.27)2.80

Authors

AuthorsStudies
Collado, MS2
Armstrong, AJ2
Olson, M1
Hoang, SA2
Day, N1
Summar, M1
Chapman, KA3
Reardon, J1
Figler, RA2
Wamhoff, BR2
Maines, E1
Catesini, G1
Boenzi, S1
Mosca, A1
Candusso, M1
Dello Strologo, L1
Martinelli, D1
Maiorana, A1
Liguori, A1
Olivieri, G1
Taurisano, R1
Piemonte, F1
Rizzo, C1
Spada, M1
Dionisi-Vici, C1
Henke, BR1
Olson, MW1
Hamilton, CA1
Pourtaheri, TD1
Summar, MM1
Johns, BA1
Reardon, JE1
Wilson, KA1
Han, Y1
Zhang, M1
Hess, JP1
Cline, GW1
Tochtrop, GP1
Brunengraber, H1
Zhang, GF1
Longo, N1
Price, LB1
Gappmaier, E1
Cantor, NL1
Ernst, SL1
Bailey, C1
Pasquali, M1
Monostori, P1
Klinke, G1
Richter, S1
Baráth, Á1
Fingerhut, R1
Baumgartner, MR1
Kölker, S1
Hoffmann, GF2
Gramer, G1
Okun, JG2
Al Dhahouri, N1
Langhans, CD1
Al Hammadi, Z1
Al-Jasmi, F1
Al-Dirbashi, OY1
Guenzel, AJ1
Collard, R1
Kraus, JP1
Matern, D1
Barry, MA2
Amaral, AU1
Cecatto, C1
Castilho, RF1
Wajner, M1
Chandler, RJ1
Chandrasekaran, S1
Carrillo-Carrasco, N1
Senac, JS1
Hofherr, SE1
Venditti, CP1
Kasahara, M1
Sakamoto, S1
Kanazawa, H1
Karaki, C1
Kakiuchi, T1
Shigeta, T1
Fukuda, A1
Kosaki, R1
Nakazawa, A1
Ishige, M1
Nagao, M1
Shigematsu, Y1
Yorifuji, T1
Naiki, Y1
Horikawa, R1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia.[NCT00645879]Phase 13 participants (Actual)Interventional2008-07-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trials

1 trial available for 2-methylcitric acid and Propionic Acidemia

ArticleYear
Anaplerotic therapy in propionic acidemia.
    Molecular genetics and metabolism, 2017, Volume: 122, Issue:1-2

    Topics: Amino Acids; Ammonia; Carbon-Carbon Ligases; Child; Child, Preschool; Citrates; Citric Acid; Citric

2017

Other Studies

10 other studies available for 2-methylcitric acid and Propionic Acidemia

ArticleYear
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Molecular genetics and metabolism, 2020, Volume: 130, Issue:3

    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.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

    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.
    Molecular genetics and metabolism, 2021, Volume: 133, Issue:1

    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.
    American journal of physiology. Endocrinology and metabolism, 2017, 10-01, Volume: 313, Issue:4

    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.
    PloS one, 2017, Volume: 12, Issue:9

    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.
    Clinica chimica acta; international journal of clinical chemistry, 2018, Volume: 487

    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.
    Human gene therapy, 2015, Volume: 26, Issue:3

    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.
    Journal of neurochemistry, 2016, Volume: 137, Issue:1

    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.
    Human gene therapy, 2011, Volume: 22, Issue:4

    Topics: Animals; Citrates; Dependovirus; Disease Models, Animal; Gene Transfer Techniques; Genetic Therapy;

2011
Living-donor liver transplantation for propionic acidemia.
    Pediatric transplantation, 2012, Volume: 16, Issue:3

    Topics: Carnitine; Child, Preschool; Citrates; Female; Humans; Infant; Liver Transplantation; Living Donors;

2012