methylmalonic acid has been researched along with Brain Diseases, Metabolic, Familial in 9 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 |
|---|---|---|
| "Methylmalonic acidemia (MMA) is a multifactorial autosomal recessive inborn error of organic acid metabolism, often presenting with neurologic findings." | 1.32 | Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. ( Given, CA; Michel, SJ; Robertson, WC, 2004) |
| "Mental retardation was identified in most of the cases." | 1.31 | Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. ( Biancheri, R; Caruso, U; Cerone, R; Gatti, R; Perrone, MV; Rossi, A; Schiaffino, MC; Veneselli, E, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 6 (66.67) | 29.6817 |
| 2010's | 2 (22.22) | 24.3611 |
| 2020's | 1 (11.11) | 2.80 |
| Authors | Studies |
|---|---|
| Dimitrov, B | 1 |
| Molema, F | 1 |
| Williams, M | 1 |
| Schmiesing, J | 1 |
| Mühlhausen, C | 2 |
| Baumgartner, MR | 2 |
| Schumann, A | 1 |
| Kölker, S | 2 |
| Heringer, J | 1 |
| Valayannopoulos, V | 1 |
| Lund, AM | 1 |
| Wijburg, FA | 1 |
| Freisinger, P | 1 |
| Barić, I | 1 |
| Burgard, P | 1 |
| Burlina, AB | 1 |
| Chapman, KA | 1 |
| I Saladelafont, EC | 1 |
| Karall, D | 1 |
| Riches, V | 1 |
| Schiff, M | 1 |
| Sykut-Cegielska, J | 1 |
| Walter, JH | 1 |
| Zeman, J | 1 |
| Chabrol, B | 1 |
| Hsieh, SH | 1 |
| Cheng, PH | 1 |
| Chen, CH | 1 |
| Huang, KH | 1 |
| Chen, PH | 1 |
| Weng, YC | 1 |
| Hsieh, SL | 1 |
| Lai, F | 1 |
| Das, AM | 1 |
| Michel, SJ | 1 |
| Given, CA | 1 |
| Robertson, WC | 1 |
| Vasques, V | 1 |
| Brinco, F | 1 |
| Viegas, CM | 1 |
| Wajner, M | 1 |
| Sharma, AP | 1 |
| Greenberg, CR | 1 |
| Prasad, AN | 1 |
| Prasad, C | 1 |
| Thauvin-Robinet, C | 1 |
| Roze, E | 1 |
| Couvreur, G | 1 |
| Horellou, MH | 1 |
| Sedel, F | 1 |
| Grabli, D | 1 |
| Bruneteau, G | 1 |
| Tonneti, C | 1 |
| Masurel-Paulet, A | 1 |
| Perennou, D | 1 |
| Moreau, T | 1 |
| Giroud, M | 1 |
| de Baulny, HO | 1 |
| Giraudier, S | 1 |
| Faivre, L | 1 |
| Biancheri, R | 1 |
| Cerone, R | 1 |
| Schiaffino, MC | 1 |
| Caruso, U | 1 |
| Veneselli, E | 1 |
| Perrone, MV | 1 |
| Rossi, A | 1 |
| Gatti, R | 1 |
2 reviews available for methylmalonic acid and Brain Diseases, Metabolic, Familial
| Article | Year |
|---|---|
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic, Inborn; Energy Meta | 2021 |
Regulation of the mitochondrial ATP-synthase in health and disease.
Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Cells, Cultured; Chickens; Disease; Disease Model | 2003 |
7 other studies available for methylmalonic acid and Brain Diseases, Metabolic, Familial
| Article | Year |
|---|---|
Impact of age at onset and newborn screening on outcome in organic acidurias.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorder | 2016 |
A multi-voting enhancement for newborn screening healthcare information system.
Topics: Algorithms; Brain Diseases, Metabolic, Inborn; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal | 2010 |
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia.
Topics: Brain Diseases, Metabolic, Inborn; Child, Preschool; Diffusion Magnetic Resonance Imaging; Globus Pa | 2004 |
Creatine prevents behavioral alterations caused by methylmalonic acid administration into the hippocampus of rats in the open field task.
Topics: Animals; Avoidance Learning; Brain Diseases, Metabolic, Inborn; Creatine; Disease Models, Animal; En | 2006 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; C | 2008 |
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Atrophy; Brain; Brain Diseases, Metabolic | 2001 |