malonic acid has been researched along with Metabolism, Inborn Errors in 14 studies
malonic acid : An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group.
dicarboxylic acid : Any carboxylic acid containing two carboxy groups.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency." | 1.62 | Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. ( Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S, 2021) |
| "Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl-CoA decarboxylase, encoded by the MLYCD gene." | 1.34 | Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. ( Ciani, F; Donati, MA; Genuardi, M; la Marca, G; Malvagia, S; Morrone, A; Papi, L; Pasquini, E; Scholte, HR; Zammarchi, E, 2007) |
| " The pathomechanisms involved are still unknown, a contribution of toxic organic acids, in particular MMA, has been suggested." | 1.31 | Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. ( Farkas, LM; Feyh, P; Hinz, A; Hoffmann, GF; Hörster, F; Kölker, S; Mayatepek, E; Okun, JG; Sauer, S; Unsicker, K, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (7.14) | 18.7374 |
| 1990's | 3 (21.43) | 18.2507 |
| 2000's | 3 (21.43) | 29.6817 |
| 2010's | 5 (35.71) | 24.3611 |
| 2020's | 2 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Snanoudj, S | 1 |
| Torre, S | 1 |
| Sudrié-Arnaud, B | 1 |
| Abily-Donval, L | 1 |
| Goldenberg, A | 1 |
| Salomons, GS | 2 |
| Marret, S | 1 |
| Bekri, S | 1 |
| Tebani, A | 1 |
| Lee, SH | 1 |
| Ko, JM | 1 |
| Song, MK | 1 |
| Song, J | 1 |
| Park, KS | 1 |
| Ambati, CS | 1 |
| Yuan, F | 1 |
| Abu-Elheiga, LA | 1 |
| Zhang, Y | 1 |
| Shetty, V | 1 |
| Levtova, A | 1 |
| Waters, PJ | 1 |
| Buhas, D | 1 |
| Lévesque, S | 1 |
| Auray-Blais, C | 1 |
| Clarke, JTR | 1 |
| Laframboise, R | 1 |
| Maranda, B | 1 |
| Mitchell, GA | 1 |
| Brunel-Guitton, C | 1 |
| Braverman, NE | 1 |
| Colak, G | 1 |
| Pougovkina, O | 1 |
| Dai, L | 1 |
| Tan, M | 1 |
| Te Brinke, H | 1 |
| Huang, H | 1 |
| Cheng, Z | 1 |
| Park, J | 1 |
| Wan, X | 1 |
| Liu, X | 1 |
| Yue, WW | 1 |
| Wanders, RJ | 1 |
| Locasale, JW | 1 |
| Lombard, DB | 1 |
| de Boer, VC | 1 |
| Zhao, Y | 1 |
| Liu, H | 1 |
| Tan, D | 1 |
| Han, L | 1 |
| Ye, J | 1 |
| Qiu, W | 1 |
| Gu, X | 1 |
| Zhang, H | 1 |
| Alfares, A | 1 |
| Nunez, LD | 1 |
| Al-Thihli, K | 1 |
| Mitchell, J | 1 |
| Melançon, S | 1 |
| Anastasio, N | 1 |
| Ha, KC | 1 |
| Majewski, J | 1 |
| Rosenblatt, DS | 1 |
| Braverman, N | 1 |
| Jakobs, C | 1 |
| Pope, LL | 1 |
| Errami, A | 1 |
| Potter, M | 1 |
| Nowaczyk, M | 1 |
| Olpin, S | 1 |
| Manning, N | 1 |
| Raiman, JA | 1 |
| Slade, T | 1 |
| Champion, MP | 1 |
| Peck, D | 1 |
| Gavrilov, D | 1 |
| Hillman, R | 1 |
| Hoganson, GE | 1 |
| Donaldson, K | 1 |
| Shield, JP | 1 |
| Ketteridge, D | 1 |
| Wasserstein, M | 1 |
| Gibson, KM | 3 |
| Malvagia, S | 1 |
| Papi, L | 1 |
| Morrone, A | 1 |
| Donati, MA | 1 |
| Ciani, F | 1 |
| Pasquini, E | 1 |
| la Marca, G | 1 |
| Scholte, HR | 1 |
| Genuardi, M | 1 |
| Zammarchi, E | 1 |
| Brown, GK | 1 |
| Scholem, RD | 1 |
| Bankier, A | 1 |
| Danks, DM | 1 |
| Podell, M | 1 |
| Shelton, GD | 2 |
| Nyhan, WL | 1 |
| Wagner, SO | 1 |
| Genders, A | 1 |
| Oglesbee, M | 1 |
| Fenner, WR | 1 |
| Gao, J | 1 |
| Waber, L | 1 |
| Bennett, MJ | 1 |
| Cohen, JC | 1 |
| O'Brien, DP | 1 |
| Barshop, BA | 1 |
| Faunt, KK | 1 |
| Johnson, GC | 1 |
| Okun, JG | 1 |
| Hörster, F | 1 |
| Farkas, LM | 1 |
| Feyh, P | 1 |
| Hinz, A | 1 |
| Sauer, S | 1 |
| Hoffmann, GF | 1 |
| Unsicker, K | 1 |
| Mayatepek, E | 1 |
| Kölker, S | 1 |
14 other studies available for malonic acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Mal | 2021 |
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
Topics: Carboxy-Lyases; Cardiomyopathy, Dilated; Codon, Initiator; Humans; Infant; Male; Malonates; Malonyl | 2020 |
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Topics: Animals; Biomarkers; Carboxy-Lyases; Female; Humans; Limit of Detection; Male; Malonates; Malonyl Co | 2017 |
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Topics: Adolescent; Adult; Alleles; Child; Child, Preschool; Coenzyme A Ligases; Cohort Studies; Creatinine; | 2019 |
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.
Topics: Animals; Carboxy-Lyases; Cell Line; Fatty Acids; Fibroblasts; Humans; Liver; Lysine; Male; Malonates | 2015 |
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Topics: Acidosis; Adolescent; Base Sequence; Carboxy-Lyases; Cardiomyopathies; Child; Chromosomes; Exons; Fe | 2016 |
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Carboxy-Lyases; Coenzyme A Ligases; Ex | 2011 |
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Topics: Adolescent; Carboxy-Lyases; Child; Child, Preschool; Exons; Female; Gene Deletion; Humans; Infant; M | 2007 |
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Topics: Base Sequence; Carboxy-Lyases; Chromosomes, Human, Pair 16; DNA Mutational Analysis; DNA Primers; Fa | 2007 |
Malonyl coenzyme A decarboxylase deficiency.
Topics: Acyl Coenzyme A; Carboxy-Lyases; Child, Preschool; Fatty Acid Synthases; Fibroblasts; Humans; Male; | 1984 |
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.
Topics: Animals; Brain; Dog Diseases; Dogs; Electromyography; Encephalomyelitis; Female; Gas Chromatography- | 1996 |
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Topics: Amino Acid Sequence; Animals; Base Sequence; Carboxy-Lyases; Cardiomyopathy, Hypertrophic; Chromosom | 1999 |
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.
Topics: Animals; Carboxy-Lyases; Diet; Dog Diseases; Dogs; Epilepsy, Tonic-Clonic; Female; Fibroblasts; Malo | 1999 |
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.
Topics: Animals; Cells, Cultured; Citrates; Citric Acid Cycle; Corpus Striatum; Electron Transport Complex I | 2002 |