methylmalonic acid has been researched along with Genetic Diseases, Inborn 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.
Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion." | 3.76 | Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. ( Andreu, AL; Arenas, J; Arroyo, I; Bornstein, B; Gallardo, E; Garesse, R; Marti, R; Martin, MA; Martinez-Pardo, M; Merinero, B; Moran, MJ; Perez-Jurado, LA; Rivera, H; Ruiz-Sala, P; Serra-Suhe, C; Ugalde, C; Ugarte, M, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (25.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Valayannopoulos, V | 1 |
| Haudry, C | 1 |
| Serre, V | 1 |
| Barth, M | 1 |
| Boddaert, N | 1 |
| Arnoux, JB | 1 |
| Cormier-Daire, V | 1 |
| Rio, M | 1 |
| Rabier, D | 1 |
| Vassault, A | 1 |
| Munnich, A | 1 |
| Bonnefont, JP | 1 |
| de Lonlay, P | 1 |
| Rötig, A | 1 |
| Lebre, AS | 1 |
| Rivera, H | 1 |
| Merinero, B | 1 |
| Martinez-Pardo, M | 1 |
| Arroyo, I | 1 |
| Ruiz-Sala, P | 1 |
| Bornstein, B | 1 |
| Serra-Suhe, C | 1 |
| Gallardo, E | 1 |
| Marti, R | 1 |
| Moran, MJ | 1 |
| Ugalde, C | 1 |
| Perez-Jurado, LA | 1 |
| Andreu, AL | 1 |
| Garesse, R | 1 |
| Ugarte, M | 1 |
| Arenas, J | 1 |
| Martin, MA | 1 |
| Witkowski, R | 1 |
| Herrmann, FH | 1 |
| Rosenberg, LE | 1 |
1 review available for methylmalonic acid and Genetic Diseases, Inborn
| Article | Year |
|---|---|
Treating genetic diseases: lessons from three children.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Genetic Diseases, Inborn; Genetic Therapy; Hum | 1990 |
3 other studies available for methylmalonic acid and Genetic Diseases, Inborn
| Article | Year |
|---|---|
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Topics: Adolescent; Animals; Basal Ganglia; Carnitine; Child; Child, Preschool; Female; Genetic Diseases, In | 2010 |
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Topics: Acidosis; Aorta, Thoracic; DNA, Mitochondrial; Fatal Outcome; Female; Genetic Diseases, Inborn; Huma | 2010 |
[The variability of genetic disease entities and its meaning for diagnosis, therapy and genetic prognosis. I. Genetic basis for the heterogeneity of monogenic hereditary diseases].
Topics: Alleles; Genetic Diseases, Inborn; Genetics, Medical; Heterozygote; Homozygote; Humans; Methylmaloni | 1975 |