methylmalonic acid has been researched along with Mevalonate Kinase Deficiency 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.
Mevalonate Kinase Deficiency: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or indirectly by inhibition of mitochondrial energy metabolism (MMA)." | 1.35 | Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. ( Baumgartner, ER; Haas, D; Hoffmann, GF; Hörster, F; Menke, T; Niklowitz, P; Okun, JG; Prasad, C; Rodenburg, RJ, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Haas, D | 1 |
| Niklowitz, P | 1 |
| Hörster, F | 1 |
| Baumgartner, ER | 1 |
| Prasad, C | 1 |
| Rodenburg, RJ | 1 |
| Hoffmann, GF | 1 |
| Menke, T | 1 |
| Okun, JG | 1 |
1 other study available for methylmalonic acid and Mevalonate Kinase Deficiency
| Article | Year |
|---|---|
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.
Topics: Case-Control Studies; Cells, Cultured; Down-Regulation; Female; Fibroblasts; Humans; Metabolism, Inb | 2009 |