methylmalonic acid has been researched along with Craniofacial Abnormalities in 1 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.
Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
| 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) |
| 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 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| D'Alessandro, G | 1 |
| Tagariello, T | 1 |
| Piana, G | 1 |
1 review available for methylmalonic acid and Craniofacial Abnormalities
| 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 |