methylmalonic acid has been researched along with Deficiency, Mental 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.
| 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) |
| "Intellectual disability was equally distributed among the initial treatment groups, while renal failure (moderate and beginning at the age of 38 years) was present in only one out of seven patients initially treated with B12." | 1.72 | Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia. ( Acquaviva, C; Benoist, JF; Brassier, A; Cano, A; Chabrol, B; De Lonlay, P; Fouilhoux, A; Guffon-Fouilhoux, N; Lachmann, R; Marelli, C; Murphy, E; Pennisi, A; Schiff, M; Servais, A, 2022) |
| "Mental retardation was identified in most of the cases." | 1.31 | Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. ( Biancheri, R; Caruso, U; Cerone, R; Gatti, R; Perrone, MV; Rossi, A; Schiaffino, MC; Veneselli, E, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (22.22) | 18.7374 |
| 1990's | 3 (33.33) | 18.2507 |
| 2000's | 2 (22.22) | 29.6817 |
| 2010's | 1 (11.11) | 24.3611 |
| 2020's | 1 (11.11) | 2.80 |
| Authors | Studies |
|---|---|
| Marelli, C | 1 |
| Fouilhoux, A | 1 |
| Benoist, JF | 1 |
| De Lonlay, P | 1 |
| Guffon-Fouilhoux, N | 1 |
| Brassier, A | 1 |
| Cano, A | 1 |
| Chabrol, B | 2 |
| Pennisi, A | 1 |
| Schiff, M | 2 |
| Acquaviva, C | 1 |
| Murphy, E | 1 |
| Servais, A | 1 |
| Lachmann, R | 1 |
| Heringer, J | 1 |
| Valayannopoulos, V | 1 |
| Lund, AM | 1 |
| Wijburg, FA | 1 |
| Freisinger, P | 1 |
| Barić, I | 1 |
| Baumgartner, MR | 1 |
| Burgard, P | 1 |
| Burlina, AB | 1 |
| Chapman, KA | 1 |
| I Saladelafont, EC | 1 |
| Karall, D | 1 |
| Mühlhausen, C | 1 |
| Riches, V | 1 |
| Sykut-Cegielska, J | 1 |
| Walter, JH | 1 |
| Zeman, J | 1 |
| Kölker, S | 1 |
| Pulariani, TD | 1 |
| Geladze, NM | 1 |
| Khachapuridze, NS | 1 |
| Mindadze, AB | 1 |
| Church, JA | 1 |
| Koch, R | 1 |
| Shaw, KN | 1 |
| Nye, CA | 1 |
| Donnell, GN | 1 |
| Shevell, MI | 1 |
| Matiaszuk, N | 1 |
| Ledley, FD | 1 |
| Rosenblatt, DS | 1 |
| Sewell, AC | 1 |
| Herwig, J | 1 |
| Böhles, H | 1 |
| Biancheri, R | 1 |
| Cerone, R | 1 |
| Schiaffino, MC | 1 |
| Caruso, U | 1 |
| Veneselli, E | 1 |
| Perrone, MV | 1 |
| Rossi, A | 1 |
| Gatti, R | 1 |
| Bakker, HD | 1 |
| Duran, M | 1 |
| van Gennip, AH | 1 |
| van Sprang, FJ | 1 |
| Wadman, SK | 1 |
| Tuchman, M | 1 |
| McCann, MT | 1 |
| Johnson, PE | 1 |
| Lemieux, B | 1 |
9 other studies available for methylmalonic acid and Deficiency, Mental
| Article | Year |
|---|---|
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Humans; Intellectual Disability; Kidney Failure, | 2022 |
Impact of age at onset and newborn screening on outcome in organic acidurias.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorder | 2016 |
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellect | 2005 |
Immune functions in methylmalonicaciduria.
Topics: Acidosis; Child; Child, Preschool; Female; Humans; Immunity, Cellular; Immunoglobulin A; Immunoglobu | 1984 |
Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Child; Child, Preschool; Developmental Disabilities | 1993 |
A case of familial "benign' methylmalonic aciduria?
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Intellectual Disabil | 1996 |
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Atrophy; Brain; Brain Diseases, Metabolic | 2001 |
[Methylmalonic acidemia. Diagnosis and treatment in various patients].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Intellectua | 1978 |
Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development.
Topics: Amino Acids; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Infant, Newborn; Intellectual | 1991 |