methylmalonic acid has been researched along with Syndrome 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.
Syndrome: A characteristic symptom complex.
| Excerpt | Relevance | Reference |
|---|---|---|
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 7.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 3.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (44.44) | 18.7374 |
| 1990's | 1 (11.11) | 18.2507 |
| 2000's | 2 (22.22) | 29.6817 |
| 2010's | 2 (22.22) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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, Z | 1 |
| Fang, F | 1 |
| Ding, C | 1 |
| Wu, H | 1 |
| Lyu, J | 1 |
| Wu, Y | 1 |
| Yano, S | 1 |
| Li, L | 1 |
| Le, TP | 1 |
| Moseley, K | 1 |
| Guedalia, A | 1 |
| Lee, J | 1 |
| Gonzalez, I | 1 |
| Boles, RG | 1 |
| Tanpaiboon, P | 1 |
| Cogan, DG | 1 |
| Schulman, J | 1 |
| Porter, RJ | 1 |
| Mudd, SH | 1 |
| Strømme, P | 1 |
| Stokke, O | 1 |
| Jellum, E | 1 |
| Skjeldal, OH | 1 |
| Baumgartner, R | 1 |
| Schreier, K | 1 |
| Porath, U | 1 |
| Haan, EA | 1 |
| Danks, DM | 1 |
| Hoogenraad, NJ | 1 |
| Rogers, JG | 1 |
| Higginbottom, MC | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 1 |
3 reviews available for methylmalonic acid and Syndrome
| Article | Year |
|---|---|
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Topics: Carnitine; Child; DNA, Mitochondrial; Dystonia; Europe; Female; Homozygote; Humans; Magnetic Resonan | 2014 |
Methylmalonic acidemia (MMA).
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Intestinal Absorption; Methylmalonic Acid; Methylmalon | 2005 |
[Congenital metabolic acidosis in the postnatal period].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; G | 1978 |
6 other studies available for methylmalonic acid and Syndrome
| Article | Year |
|---|---|
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 |
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Topics: Carbon-Carbon Ligases; Child, Preschool; DNA, Mitochondrial; Female; Gene Deletion; Humans; Infant; | 2003 |
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Cobamides; Epilepsy; Eye Movements; Eyelid Diseases; Female; Homocystinuria | 1980 |
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Topics: Adult; Cataract; Child; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Metaboli | 1995 |
Hereditary hyperammonaemic syndromes--a six year experience.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Female; Humans; Infan | 1979 |
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Breast Feeding; Diagnosis, Diffe | 1978 |