methylmalonic acid has been researched along with Neuronal Ceroid-Lipofuscinoses 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.
Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sasaki, M | 1 |
| Sakuragawa, N | 1 |
| Das, AM | 1 |
2 reviews available for methylmalonic acid and Neuronal Ceroid-Lipofuscinoses
| Article | Year |
|---|---|
[Inherited metabolic disorders accompanied with epileptic manifestations].
Topics: Epilepsy; Gangliosidoses, GM2; Gaucher Disease; Humans; Infant; Infant, Newborn; Leukodystrophy, Glo | 2002 |
Regulation of the mitochondrial ATP-synthase in health and disease.
Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Cells, Cultured; Chickens; Disease; Disease Model | 2003 |