methylmalonic acid has been researched along with Abnormalities, Multiple in 3 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.
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 8.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 4.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| "Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase." | 1.43 | A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. ( Abaan, HO; Bailey-Wilson, JE; Brody, LC; Casey, M; Cropp, CD; Cunningham, C; Kim, Y; McGaughey, DM; McNulty, H; Mills, JL; Molloy, AM; O'Neill, MB; Pangilinan, F; Shane, B; Strain, JJ; Ueland, PM; Velkova, A; Ward, M; Wilson, AF, 2016) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (66.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Molloy, AM | 1 |
| Pangilinan, F | 1 |
| Mills, JL | 1 |
| Shane, B | 1 |
| O'Neill, MB | 1 |
| McGaughey, DM | 1 |
| Velkova, A | 1 |
| Abaan, HO | 1 |
| Ueland, PM | 1 |
| McNulty, H | 1 |
| Ward, M | 1 |
| Strain, JJ | 1 |
| Cunningham, C | 1 |
| Casey, M | 1 |
| Cropp, CD | 1 |
| Kim, Y | 1 |
| Bailey-Wilson, JE | 1 |
| Wilson, AF | 1 |
| Brody, LC | 1 |
| D'Alessandro, G | 1 |
| Tagariello, T | 1 |
| Piana, G | 1 |
| Cerone, R | 1 |
| Schiaffino, MC | 1 |
| Caruso, U | 1 |
| Lupino, S | 1 |
| Gatti, R | 1 |
1 review available for methylmalonic acid and Abnormalities, Multiple
| Article | Year |
|---|---|
Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Face; Female; Homocystinuria; Humans; Me | 2010 |
2 other studies available for methylmalonic acid and Abnormalities, Multiple
| Article | Year |
|---|---|
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Case-Control | 2016 |
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Face; Homocystinuria; Humans; Male; Metabolism, In | 1999 |