methylmalonic acid has been researched along with Disease Exacerbation in 15 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 7.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 3.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin." | 3.01 | Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. ( Catesini, G; Dionisi-Vici, C; Ferry, S; Gagné, J; Gebremariam, A; Hall, C; Manoli, I; Martinelli, D; McCoy, S; Pass, AR; Rizzo, C; Sacchetti, E; Sloan, JL; Spada, M; Van Ryzin, C; Venditti, CP, 2023) |
| "Seventy migraine patients and 70 healthy subjects were enrolled in this case control study." | 1.51 | Serum Vitamin B12 and Methylmalonic Acid Status in Migraineurs: A Case-Control Study. ( Ghorbani, Z; Martami, F; Razeghi Jahromi, S; Seifishahpar, M; Togha, M, 2019) |
| "Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases)." | 1.33 | Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. ( Hasegawa, Y; Hori, D; Kimura, M; Verma, IC; Yamaguchi, S; Yang, Y, 2005) |
| "Methylmalonic aciduria is a common organic aciduria disease." | 1.33 | Clinical and biochemical studies on Chinese patients with methylmalonic aciduria. ( Hasegawa, Y; Jiang, Y; Qin, J; Song, J; Sun, F; Wu, X; Yamaguchi, S; Yang, Y; Zhang, Y, 2006) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (13.33) | 18.2507 |
| 2000's | 8 (53.33) | 29.6817 |
| 2010's | 3 (20.00) | 24.3611 |
| 2020's | 2 (13.33) | 2.80 |
| Authors | Studies |
|---|---|
| Manoli, I | 1 |
| Gebremariam, A | 1 |
| McCoy, S | 1 |
| Pass, AR | 1 |
| Gagné, J | 1 |
| Hall, C | 1 |
| Ferry, S | 1 |
| Van Ryzin, C | 1 |
| Sloan, JL | 1 |
| Sacchetti, E | 1 |
| Catesini, G | 1 |
| Rizzo, C | 1 |
| Martinelli, D | 2 |
| Spada, M | 1 |
| Dionisi-Vici, C | 2 |
| Venditti, CP | 1 |
| Togha, M | 1 |
| Razeghi Jahromi, S | 1 |
| Ghorbani, Z | 1 |
| Martami, F | 1 |
| Seifishahpar, M | 1 |
| Gomes, AP | 1 |
| Ilter, D | 1 |
| Low, V | 1 |
| Endress, JE | 1 |
| Fernández-García, J | 1 |
| Rosenzweig, A | 1 |
| Schild, T | 1 |
| Broekaert, D | 1 |
| Ahmed, A | 1 |
| Planque, M | 1 |
| Elia, I | 1 |
| Han, J | 1 |
| Kinzig, C | 1 |
| Mullarky, E | 1 |
| Mutvei, AP | 1 |
| Asara, J | 1 |
| de Cabo, R | 1 |
| Cantley, LC | 1 |
| Dephoure, N | 1 |
| Fendt, SM | 1 |
| Blenis, J | 1 |
| Huemer, M | 1 |
| Diodato, D | 1 |
| Olivieri, G | 1 |
| Blom, H | 1 |
| Gleich, F | 1 |
| Kölker, S | 2 |
| Kožich, V | 1 |
| Morris, AA | 1 |
| Seifert, B | 1 |
| Froese, DS | 1 |
| Baumgartner, MR | 2 |
| Martin, CA | 1 |
| Baethmann, M | 1 |
| Ballhausen, D | 1 |
| Blasco-Alonso, J | 1 |
| Boy, N | 1 |
| Bueno, M | 1 |
| Burgos Peláez, R | 1 |
| Cerone, R | 1 |
| Chabrol, B | 1 |
| Chapman, KA | 1 |
| Couce, ML | 1 |
| Crushell, E | 1 |
| Dalmau Serra, J | 1 |
| Diogo, L | 1 |
| Ficicioglu, C | 1 |
| García Jimenez, MC | 1 |
| García Silva, MT | 1 |
| Gaspar, AM | 1 |
| Gautschi, M | 1 |
| González-Lamuño, D | 1 |
| Gouveia, S | 1 |
| Grünewald, S | 1 |
| Hendriksz, C | 1 |
| Janssen, MCH | 1 |
| Jesina, P | 1 |
| Koch, J | 1 |
| Konstantopoulou, V | 1 |
| Lavigne, C | 1 |
| Lund, AM | 1 |
| Martins, EG | 1 |
| Meavilla Olivas, S | 1 |
| Mention, K | 1 |
| Mochel, F | 1 |
| Mundy, H | 1 |
| Murphy, E | 1 |
| Paquay, S | 1 |
| Pedrón-Giner, C | 1 |
| Ruiz Gómez, MA | 1 |
| Santra, S | 1 |
| Schiff, M | 1 |
| Schwartz, IV | 1 |
| Scholl-Bürgi, S | 1 |
| Servais, A | 1 |
| Skouma, A | 1 |
| Tran, C | 1 |
| Vives Piñera, I | 1 |
| Walter, J | 1 |
| Weisfeld-Adams, J | 1 |
| Gerth, C | 1 |
| Morel, CF | 1 |
| Feigenbaum, A | 1 |
| Levin, AV | 1 |
| Cosson, MA | 1 |
| Benoist, JF | 1 |
| Touati, G | 1 |
| Déchaux, M | 1 |
| Royer, N | 1 |
| Grandin, L | 1 |
| Jais, JP | 1 |
| Boddaert, N | 1 |
| Barbier, V | 1 |
| Desguerre, I | 1 |
| Campeau, PM | 1 |
| Rabier, D | 1 |
| Valayannopoulos, V | 1 |
| Niaudet, P | 1 |
| de Lonlay, P | 1 |
| Ratschmann, R | 1 |
| Minkov, M | 1 |
| Kis, A | 1 |
| Hung, C | 1 |
| Rupar, T | 1 |
| Mühl, A | 1 |
| Fowler, B | 2 |
| Nexo, E | 1 |
| Bodamer, OA | 1 |
| O'Leary, F | 1 |
| Allman-Farinelli, M | 1 |
| Samman, S | 1 |
| Nyhan, WL | 1 |
| Gargus, JJ | 1 |
| Boyle, K | 1 |
| Selby, R | 1 |
| Koch, R | 1 |
| Hori, D | 1 |
| Hasegawa, Y | 2 |
| Kimura, M | 1 |
| Yang, Y | 2 |
| Verma, IC | 1 |
| Yamaguchi, S | 2 |
| Boxer, AL | 1 |
| Kramer, JH | 1 |
| Johnston, K | 1 |
| Goldman, J | 1 |
| Finley, R | 1 |
| Miller, BL | 1 |
| Sun, F | 1 |
| Song, J | 1 |
| Zhang, Y | 1 |
| Jiang, Y | 1 |
| Qin, J | 1 |
| Wu, X | 1 |
| Hörster, F | 1 |
| Viardot, C | 1 |
| Suormala, T | 1 |
| Burgard, P | 1 |
| Hoffmann, GF | 2 |
| Garbade, SF | 1 |
| Baumgartner, ER | 1 |
| Mayatepek, E | 1 |
| Baumgartner, R | 1 |
| Schulze, A | 1 |
| Jakobs, C | 1 |
| Trefz, FK | 1 |
| Bremer, HJ | 1 |
| Enns, GM | 1 |
| Barkovich, AJ | 1 |
| Rosenblatt, DS | 1 |
| Fredrick, DR | 1 |
| Weisiger, K | 1 |
| Ohnstad, C | 1 |
| Packman, S | 1 |
2 reviews available for methylmalonic acid and Disease Exacerbation
| Article | Year |
|---|---|
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Disease Progression; Humans; Methylmalonic Acid; M | 2023 |
Vitamin B₁₂ status, cognitive decline and dementia: a systematic review of prospective cohort studies.
Topics: Aged; Aged, 80 and over; Biomarkers; Cognition; Cognition Disorders; Cognitive Dysfunction; Dementia | 2012 |
13 other studies available for methylmalonic acid and Disease Exacerbation
| Article | Year |
|---|---|
Serum Vitamin B12 and Methylmalonic Acid Status in Migraineurs: A Case-Control Study.
Topics: Adolescent; Adult; Anthropometry; Case-Control Studies; Cost of Illness; Disease Progression; Female | 2019 |
Age-induced accumulation of methylmalonic acid promotes tumour progression.
Topics: Adult; Aged; Aging; Animals; Cell Line, Tumor; Disease Progression; Female; Gene Expression Regulati | 2020 |
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cros | 2019 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Topics: Adolescent; Age of Onset; Anterior Eye Segment; Carrier Proteins; Child; Child, Preschool; Disease P | 2008 |
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Disease Progressio | 2009 |
Transcobalamin II deficiency at birth.
Topics: Child, Preschool; Disease Progression; Female; Humans; Infant; Methylmalonic Acid; Pancytopenia; Tra | 2009 |
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
Topics: Acute Kidney Injury; Adult; Disease Progression; Female; Humans; Liver Transplantation; Metabolism, | 2002 |
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Topics: Adolescent; Age of Onset; Asia; Carboxylic Acids; Child; Child, Preschool; Disease Progression; Drug | 2005 |
Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.
Topics: Adult; Anticoagulants; Betaine; Cognition Disorders; Confusion; Disease Progression; Drug Therapy, C | 2005 |
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Pre | 2006 |
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Topics: Adolescent; Adult; Age of Onset; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; | 2007 |
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Disease Progression; | 1996 |
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Topics: Brain; Child, Preschool; Disease Progression; Female; Humans; Hydroxocobalamin; Magnetic Resonance I | 1999 |