methylmalonic acid has been researched along with Diseases in Twins 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.
Diseases in Twins: Disorders affecting TWINS, one or both, at any age.
Excerpt | Relevance | Reference |
---|---|---|
"The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins." | 3.66 | [Vitamin-B12-dependent methylmalonic acidemia in twins]. ( Hansen, HG; Heuer, R; Karsten, J; Kneer, J; Wulff, UC, 1983) |
"The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin." | 1.34 | [Diagnosis and treatment of methylmalonic aciduria: a case report]. ( Domínguez, CL; Mahfoud, A; Merinero, B; Pérez, A; Pérez, B; Rizzo, C, 2007) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (50.00) | 18.7374 |
1990's | 0 (0.00) | 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 |
---|---|
Mahfoud, A | 1 |
Domínguez, CL | 1 |
Pérez, A | 1 |
Rizzo, C | 1 |
Merinero, B | 1 |
Pérez, B | 1 |
Karsten, J | 1 |
Hansen, HG | 1 |
Heuer, R | 1 |
Wulff, UC | 1 |
Kneer, J | 1 |
2 other studies available for methylmalonic acid and Diseases in Twins
Article | Year |
---|---|
[Diagnosis and treatment of methylmalonic aciduria: a case report].
Topics: Acidosis; Amino Acid Substitution; Child, Preschool; Coma; Diet, Protein-Restricted; Diseases in Twi | 2007 |
[Vitamin-B12-dependent methylmalonic acidemia in twins].
Topics: Acidosis; Diseases in Twins; Glycine; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylma | 1983 |