methylmalonic acid has been researched along with Orphan Diseases in 2 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.
Orphan Diseases: Rare diseases that have not been well studied.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Clinical trial development in rare diseases poses significant study design and methodology challenges, such as disease heterogeneity and appropriate patient selection, identification and selection of key endpoints, decisions on study duration, choice of control groups, selection of appropriate statistical analyses, and patient recruitment." | 3.01 | Challenges and strategies for clinical trials in propionic and methylmalonic acidemias. ( Burton, B; Ganju, J; Jurecka, A; Leiro, B; Longo, N; Vockley, J; Zori, R, 2023) |
| 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 | 1 (50.00) | 24.3611 |
| 2020's | 1 (50.00) | 2.80 |
| Authors | Studies |
|---|---|
| Vockley, J | 1 |
| Burton, B | 1 |
| Jurecka, A | 1 |
| Ganju, J | 1 |
| Leiro, B | 1 |
| Zori, R | 1 |
| Longo, N | 1 |
| Prada, CE | 1 |
| Jefferies, JL | 1 |
| Grenier, MA | 1 |
| Huth, CM | 1 |
| Page, KI | 1 |
| Spicer, RL | 1 |
| Towbin, JA | 1 |
| Leslie, ND | 1 |
1 review available for methylmalonic acid and Orphan Diseases
| Article | Year |
|---|---|
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Methylmalonic Acid; Propionic Acidemia; Rare Diseases; | 2023 |
1 other study available for methylmalonic acid and Orphan Diseases
| Article | Year |
|---|---|
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; C | 2012 |