methylmalonic acid has been researched along with Demyelinating Diseases in 5 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.
Demyelinating Diseases: Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism." | 7.76 | Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. ( Della Giustina, E; Frattini, D; Fusco, C; Tavazzi, B; Ucchino, V, 2010) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase." | 7.71 | Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. ( Biancheri, R; Cerone, R; Fonda, C; Gatti, R; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Zammarchi, E, 2001) |
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism." | 3.76 | Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. ( Della Giustina, E; Frattini, D; Fusco, C; Tavazzi, B; Ucchino, V, 2010) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase." | 3.71 | Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. ( Biancheri, R; Cerone, R; Fonda, C; Gatti, R; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Zammarchi, E, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (20.00) | 18.2507 |
| 2000's | 2 (40.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Duque, MA | 1 |
| Kresak, JL | 1 |
| Falchook, A | 1 |
| Harris, NS | 1 |
| Frattini, D | 1 |
| Fusco, C | 1 |
| Ucchino, V | 1 |
| Tavazzi, B | 1 |
| Della Giustina, E | 1 |
| Waclawik, AJ | 1 |
| Luzzio, CC | 1 |
| Juhasz-Pocsine, K | 1 |
| Hamilton, V | 1 |
| Allen, RH | 1 |
| Stabler, SP | 1 |
| Lindenbaum, J | 1 |
| Rossi, A | 1 |
| Cerone, R | 1 |
| Biancheri, R | 1 |
| Gatti, R | 1 |
| Schiaffino, MC | 1 |
| Fonda, C | 1 |
| Zammarchi, E | 1 |
| Tortori-Donati, P | 1 |
1 review available for methylmalonic acid and Demyelinating Diseases
| Article | Year |
|---|---|
Relevance of vitamins, homocysteine and other metabolites in neuropsychiatric disorders.
Topics: Central Nervous System Diseases; Citrates; Demyelinating Diseases; Folic Acid; Homocysteine; Humans; | 1998 |
4 other studies available for methylmalonic acid and Demyelinating Diseases
| Article | Year |
|---|---|
Nitrous Oxide Abuse and Vitamin B12 Action in a 20-Year-Old Woman: A Case Report.
Topics: Adult; Demyelinating Diseases; Female; Humans; Methylmalonic Acid; Nitrous Oxide; Paresthesia; Spina | 2015 |
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Topics: Demyelinating Diseases; Female; Genetic Association Studies; Homocystinuria; Humans; Infant; Methylm | 2010 |
Myeloneuropathy from nitrous oxide abuse: unusually high methylmalonic acid and homocysteine levels.
Topics: Adult; Anesthetics, Inhalation; Demyelinating Diseases; Diagnosis, Differential; Homocysteine; Human | 2003 |
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
Topics: Brain; Brain Edema; Demyelinating Diseases; Female; Gliosis; Homocystinuria; Humans; Infant; Infant, | 2001 |