methylmalonic acid has been researched along with Epilepsy 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.
Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Excerpt | Relevance | Reference |
---|---|---|
" We have studied 27 patients of age from 3 months to 3 years: PKU -- 15 cases; homocystinuria -- 4; hyper-prolinemia -- 1; methylmalonic acidemia -- 5 and combined disorders -- 2." | 3.73 | [Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. ( Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD, 2005) |
"To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine." | 3.71 | Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. ( Biancheri, R; Caruso, U; Cerone, R; Minniti, G; Perrone, MV; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Veneselli, E, 2002) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (25.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 3 (75.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Sasaki, M | 1 |
Sakuragawa, N | 1 |
Pulariani, TD | 1 |
Geladze, NM | 1 |
Khachapuridze, NS | 1 |
Mindadze, AB | 1 |
Cogan, DG | 1 |
Schulman, J | 1 |
Porter, RJ | 1 |
Mudd, SH | 1 |
Biancheri, R | 1 |
Cerone, R | 1 |
Rossi, A | 1 |
Schiaffino, MC | 1 |
Caruso, U | 1 |
Minniti, G | 1 |
Perrone, MV | 1 |
Tortori-Donati, P | 1 |
Veneselli, E | 1 |
1 review available for methylmalonic acid and Epilepsy
Article | Year |
---|---|
[Inherited metabolic disorders accompanied with epileptic manifestations].
Topics: Epilepsy; Gangliosidoses, GM2; Gaucher Disease; Humans; Infant; Infant, Newborn; Leukodystrophy, Glo | 2002 |
3 other studies available for methylmalonic acid and Epilepsy
Article | Year |
---|---|
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellect | 2005 |
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Cobamides; Epilepsy; Eye Movements; Eyelid Diseases; Female; Homocystinuria | 1980 |
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
Topics: Age of Onset; Brain; Electroencephalography; Epilepsy; Female; Follow-Up Studies; Homocysteine; Homo | 2002 |