methylmalonic acid has been researched along with Spasms, Infantile 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.
Spasms, Infantile: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Infantile spasms (or West syndrome) occur occasionally in patients with branched-chain organic acidurias." | 1.36 | Management of West syndrome in a patient with methylmalonic aciduria. ( Bahi-Buisson, N; Benoist, JF; Boddaert, N; Campeau, PM; de Lonlay, P; Desguerre, I; Dulac, O; Plouin, P; Rabier, D; Touati, G; Valayannopoulos, V, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Campeau, PM | 1 |
| Valayannopoulos, V | 1 |
| Touati, G | 1 |
| Bahi-Buisson, N | 1 |
| Boddaert, N | 1 |
| Plouin, P | 1 |
| Rabier, D | 1 |
| Benoist, JF | 1 |
| Dulac, O | 1 |
| de Lonlay, P | 1 |
| Desguerre, I | 1 |
| Erol, I | 1 |
| Alehan, F | 1 |
| Gümüs, A | 1 |
2 other studies available for methylmalonic acid and Spasms, Infantile
| Article | Year |
|---|---|
Management of West syndrome in a patient with methylmalonic aciduria.
Topics: Brain; Child, Preschool; Diffusion Magnetic Resonance Imaging; Electroencephalography; Follow-Up Stu | 2010 |
West syndrome in an infant with vitamin B12 deficiency in the absence of macrocytic anaemia.
Topics: Anemia, Macrocytic; Brain; Diagnosis, Differential; Electroencephalography; Female; Homocysteine; Hu | 2007 |