methylmalonic acid has been researched along with Brain Diseases in 9 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.
Brain Diseases: Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism." | 3.88 | Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations. ( Liu, YM; Wang, SJ; Yan, CZ; Zhao, YY, 2018) |
| "Methylmalonic acidemia (MMA) is an autosomal-recessive inborn error of metabolism." | 2.44 | Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. ( Ghanaati, H; Molaei, S; Radmanesh, A; Robertson, RL; Zaman, T; Zamani, AA, 2008) |
| "No methylmalonic acidemia has been reported in children with CDKL5 disorder." | 1.48 | A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( Akamine, S; Fukai, R; Hara, T; Ishizaki, Y; Kimura, M; Koga, H; Matsumoto, N; Miyake, N; Ohga, S; Ohkubo, K; Saitsu, H; Sakai, Y; Sakamoto, O; Sakata, A; Sanefuji, M; Torisu, H; Yamaguchi, S, 2018) |
| "We report the first case of acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA in China." | 1.42 | [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. ( Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y, 2015) |
| "A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months." | 1.27 | Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. ( Korf, B; Levy, HL; Wallman, JK, 1986) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (22.22) | 18.7374 |
| 1990's | 3 (33.33) | 18.2507 |
| 2000's | 1 (11.11) | 29.6817 |
| 2010's | 3 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wang, SJ | 1 |
| Yan, CZ | 1 |
| Liu, YM | 1 |
| Zhao, YY | 1 |
| Akamine, S | 1 |
| Ishizaki, Y | 1 |
| Sakai, Y | 1 |
| Torisu, H | 1 |
| Fukai, R | 1 |
| Miyake, N | 1 |
| Ohkubo, K | 1 |
| Koga, H | 1 |
| Sanefuji, M | 1 |
| Sakata, A | 1 |
| Kimura, M | 1 |
| Yamaguchi, S | 1 |
| Sakamoto, O | 1 |
| Hara, T | 1 |
| Saitsu, H | 1 |
| Matsumoto, N | 1 |
| Ohga, S | 1 |
| Liu, Y | 1 |
| Wu, T | 1 |
| Wang, H | 1 |
| Ding, Y | 1 |
| Song, J | 1 |
| Li, X | 1 |
| Zhang, Y | 1 |
| Wang, Q | 1 |
| Yang, Y | 1 |
| Radmanesh, A | 1 |
| Zaman, T | 1 |
| Ghanaati, H | 1 |
| Molaei, S | 1 |
| Robertson, RL | 1 |
| Zamani, AA | 1 |
| Capece, G | 1 |
| Giliberti, P | 1 |
| Militerni, R | 1 |
| Pignero, A | 1 |
| Mayatepek, E | 1 |
| Hoffmann, GF | 1 |
| Baumgartner, R | 1 |
| Schulze, A | 1 |
| Jakobs, C | 1 |
| Trefz, FK | 1 |
| Bremer, HJ | 1 |
| van Asselt, DZ | 1 |
| Karlietis, MH | 1 |
| Poels, PJ | 1 |
| de Jong, JG | 1 |
| Wevers, RA | 1 |
| Hoefnagels, WH | 1 |
| Vellema, P | 1 |
| van den Ingh, TS | 1 |
| Wouda, W | 1 |
| Korf, B | 1 |
| Wallman, JK | 1 |
| Levy, HL | 1 |
1 review available for methylmalonic acid and Brain Diseases
| Article | Year |
|---|---|
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child, Preschool; Female; Humans; Infant; Infa | 2008 |
1 trial available for methylmalonic acid and Brain Diseases
| Article | Year |
|---|---|
Pathological changes in cobalt-supplemented and non-supplemented twin lambs in relation to blood concentrations of methylmalonic acid and homocysteine.
Topics: Animals; Brain; Brain Diseases; Cobalt; Copper; Diet; Female; Hepatitis, Chronic; Homocysteine; Litt | 1999 |
7 other studies available for methylmalonic acid and Brain Diseases
| Article | Year |
|---|---|
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Topics: Adolescent; Adult; Asian People; Atrophy; Brain; Brain Diseases; Carrier Proteins; Child; Child, Pre | 2018 |
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Male; Methionine; Methylma | 2018 |
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carnitine; Diet, Protein-Restricted; Hepatitis | 2015 |
[A case of metabolic encephalopathy caused by vitamin B 12-dependent methylmalonicaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Female; Humans; Infant; Malonates; Methylmalon | 1981 |
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Child, Preschool; Disease Progression; | 1996 |
Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations.
Topics: Adult; Aged; Brain Diseases; Female; Humans; Male; Mental Disorders; Methylmalonic Acid; Middle Aged | 1998 |
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.
Topics: Brain Diseases; Female; Globus Pallidus; Humans; Infant; Malonates; Methylmalonic Acid; Tomography, | 1986 |