methylmalonic acid has been researched along with Microcephaly 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.
Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| 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 (50.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Smith, DL | 1 |
| Bodamer, OA | 1 |
| Strømme, P | 1 |
| Stokke, O | 1 |
| Jellum, E | 1 |
| Skjeldal, OH | 1 |
| Baumgartner, R | 1 |
2 other studies available for methylmalonic acid and Microcephaly
| Article | Year |
|---|---|
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Topics: Adult; Cataract; Child; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Metaboli | 1995 |