methylmalonic acid has been researched along with Aqueductal Stenosis in 4 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 |
|---|---|---|
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| He, RX | 1 |
| Dong, H | 1 |
| Zhang, HW | 1 |
| Zhang, Y | 1 |
| Kang, LL | 1 |
| Li, H | 1 |
| Shen, M | 1 |
| Mo, R | 1 |
| Song, JQ | 1 |
| Liu, YP | 1 |
| Chen, ZH | 1 |
| Liu, Y | 1 |
| Jin, Y | 1 |
| Li, MQ | 1 |
| Zheng, H | 1 |
| Li, DX | 1 |
| Qin, J | 1 |
| Zhang, HF | 1 |
| Huang, M | 1 |
| Zheng, RX | 1 |
| Liang, DS | 1 |
| Tian, YP | 1 |
| Yao, HX | 1 |
| Yang, YL | 1 |
| Smith, DL | 1 |
| Bodamer, OA | 1 |
| Podell, M | 1 |
| Shelton, GD | 1 |
| Nyhan, WL | 1 |
| Wagner, SO | 1 |
| Genders, A | 1 |
| Oglesbee, M | 1 |
| Fenner, WR | 1 |
| Rossi, A | 1 |
| Biancheri, R | 1 |
| Tortori-Donati, P | 1 |
4 other studies available for methylmalonic acid and Aqueductal Stenosis
| Article | Year |
|---|---|
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Hydrocephalus; Infant, Newborn; Male; M | 2021 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.
Topics: Animals; Brain; Dog Diseases; Dogs; Electromyography; Encephalomyelitis; Female; Gas Chromatography- | 1996 |
The pathogenesis of hydrocephalus in inborn errors of the single carbon transfer pathway.
Topics: Cerebrospinal Fluid; Homocystinuria; Humans; Hydrocephalus; Infant; Methylenetetrahydrofolate Reduct | 2001 |