methylmalonic acid has been researched along with Decreased Muscle Tone in 8 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 |
|---|---|---|
| "A case of methylmalonic acidemia with intermittend homocystinuria is described." | 3.66 | [A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)]. ( Lehnert, W; Leupold, D; Schuchmann, L, 1978) |
| " She was maintained on 2 mg/kg/day dosing of hydroxocobalamin." | 1.72 | Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period. ( Farach, L; Frigeni, M; Gunther, K; Kacpura, A, 2022) |
| "Methylmalonic acidemia (MMA) is an autosomal recessive disease of organic acidemia." | 1.48 | Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( Chang, HT; Chang, MY; Chu, CC; Hsu, YL; Zhao, Z, 2018) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (12.50) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (25.00) | 29.6817 |
| 2010's | 3 (37.50) | 24.3611 |
| 2020's | 2 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kacpura, A | 1 |
| Frigeni, M | 1 |
| Gunther, K | 1 |
| Farach, L | 1 |
| Wiedemann, A | 1 |
| Oussalah, A | 1 |
| Lamireau, N | 1 |
| Théron, M | 1 |
| Julien, M | 1 |
| Mergnac, JP | 1 |
| Augay, B | 1 |
| Deniaud, P | 1 |
| Alix, T | 1 |
| Frayssinoux, M | 1 |
| Feillet, F | 1 |
| Guéant, JL | 1 |
| Zhao, Z | 1 |
| Chu, CC | 1 |
| Chang, MY | 1 |
| Chang, HT | 1 |
| Hsu, YL | 1 |
| Kamoun, F | 1 |
| Guirat, R | 1 |
| Megdich, F | 1 |
| Ben Ameur, S | 1 |
| Kallel, C | 1 |
| Hachicha, M | 1 |
| Nir, V | 1 |
| Mandel, H | 1 |
| Kassem, I | 1 |
| Klein-Kremer, A | 1 |
| Carrozzo, R | 1 |
| Dionisi-Vici, C | 1 |
| Steuerwald, U | 1 |
| Lucioli, S | 1 |
| Deodato, F | 1 |
| Di Giandomenico, S | 1 |
| Bertini, E | 1 |
| Franke, B | 1 |
| Kluijtmans, LA | 1 |
| Meschini, MC | 1 |
| Rizzo, C | 1 |
| Piemonte, F | 1 |
| Rodenburg, R | 1 |
| Santer, R | 1 |
| Santorelli, FM | 1 |
| van Rooij, A | 1 |
| Vermunt-de Koning, D | 1 |
| Morava, E | 1 |
| Wevers, RA | 1 |
| Smolka, V | 1 |
| Bekárek, V | 1 |
| Hlídková, E | 1 |
| Bucil, J | 1 |
| Mayerová, D | 1 |
| Skopková, Z | 1 |
| Adam, T | 1 |
| Hrubá, E | 1 |
| Kozich, V | 1 |
| Buriánková, L | 1 |
| Saligová, J | 1 |
| Buncová, M | 1 |
| Zeman, J | 1 |
| Schuchmann, L | 1 |
| Leupold, D | 1 |
| Lehnert, W | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect[NCT01793090] | Phase 2 | 30 participants (Actual) | Interventional | 2013-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for methylmalonic acid and Decreased Muscle Tone
| Article | Year |
|---|---|
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B
Topics: Humans; Methylmalonic Acid; Muscle Hypotonia; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins | 2022 |
7 other studies available for methylmalonic acid and Decreased Muscle Tone
| Article | Year |
|---|---|
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydroxocobalamin; Infant, Newborn; Methylmalon | 2022 |
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report.
Topics: Acute Kidney Injury; Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Electric | 2018 |
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant.
Topics: Adult; Agammaglobulinemia; Anemia, Megaloblastic; Anemia, Pernicious; Asymptomatic Diseases; Breast | 2017 |
Hyperpigmentation and hypotonia in a 3-month-old infant.
Topics: Breast Feeding; Female; Humans; Hyperpigmentation; Infant; Maternal Nutritional Physiological Phenom | 2011 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Topics: Atlantic Islands; Brain; Carnitine; Deafness; DNA Mutational Analysis; DNA, Mitochondrial; Family He | 2007 |
[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers].
Topics: Anemia, Megaloblastic; Brain; Breast Feeding; Developmental Disabilities; Diet, Vegetarian; Failure | 2001 |
[A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)].
Topics: Homocystinuria; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Malonates; M | 1978 |