methylmalonic acid has been researched along with Gasser Syndrome in 7 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 hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria is seen during the first weeks of life." | 8.78 | [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis]. ( Casadevall, I; Chenel, C; Gourrier, E; Ogier, H; Wood, C; Zittoun, J, 1993) |
| "A hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria is seen during the first weeks of life." | 4.78 | [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis]. ( Casadevall, I; Chenel, C; Gourrier, E; Ogier, H; Wood, C; Zittoun, J, 1993) |
| "Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities." | 3.73 | Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. ( Coates, T; Gonzalez-Gomez, I; Wu, S; Yano, S, 2005) |
| "We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure." | 3.68 | Cobalamin C defect associated with hemolytic-uremic syndrome. ( Casella, JF; Geraghty, MT; Hayflick, SJ; Martin, LS; Perlman, EJ; Rosenblatt, DS; Valle, D, 1992) |
| " Increasing the dosage of hydroxycobalamin from 1 to 2." | 1.31 | Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. ( Arnout, J; Baumgartner, ER; Fowler, B; Fryns, JP; Grünewald, S; Peters, H; Van Damme, B; Van Damme-Lombaerts, R; Van Hove, JL; Wevers, R, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (57.14) | 18.2507 |
| 2000's | 3 (42.86) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Van Hove, JL | 1 |
| Van Damme-Lombaerts, R | 1 |
| Grünewald, S | 1 |
| Peters, H | 1 |
| Van Damme, B | 1 |
| Fryns, JP | 1 |
| Arnout, J | 1 |
| Wevers, R | 1 |
| Baumgartner, ER | 1 |
| Fowler, B | 1 |
| Wu, S | 1 |
| Gonzalez-Gomez, I | 1 |
| Coates, T | 1 |
| Yano, S | 1 |
| Sharma, AP | 1 |
| Greenberg, CR | 1 |
| Prasad, AN | 1 |
| Prasad, C | 1 |
| Cerone, R | 1 |
| Barbano, G | 1 |
| Maritano, L | 1 |
| Perfumo, F | 1 |
| Caruso, U | 1 |
| Gusmano, G | 1 |
| Romano, C | 1 |
| Chenel, C | 1 |
| Wood, C | 1 |
| Gourrier, E | 1 |
| Zittoun, J | 1 |
| Casadevall, I | 1 |
| Ogier, H | 1 |
| Rogé Canales, M | 1 |
| Rodrigo Gonzalo de Liria, C | 1 |
| Prats Viñas, LJ | 1 |
| Vaquero Pérez, M | 1 |
| Ribes Rubió, A | 1 |
| Rodés Monegal, M | 1 |
| Pintos Morell, G | 1 |
| Geraghty, MT | 1 |
| Perlman, EJ | 1 |
| Martin, LS | 1 |
| Hayflick, SJ | 1 |
| Casella, JF | 1 |
| Rosenblatt, DS | 1 |
| Valle, D | 1 |
2 reviews available for methylmalonic acid and Gasser Syndrome
| Article | Year |
|---|---|
[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
Topics: Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Methylmalonic Acid; Vita | 1993 |
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].
Topics: Fatal Outcome; Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Methylmal | 1996 |
5 other studies available for methylmalonic acid and Gasser Syndrome
| Article | Year |
|---|---|
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
Topics: Age of Onset; Child; Child, Preschool; Female; Hematinics; Hematuria; Hemolysis; Hemolytic-Uremic Sy | 2002 |
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
Topics: Diagnosis, Differential; Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant; Lymphohi | 2005 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |
[Neonatal hemolytic and uremic syndrome, methylmalonic aciduria and homocystinuria due to intracellular vitamin B12 deficiency].
Topics: Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Vita | 1994 |
Cobalamin C defect associated with hemolytic-uremic syndrome.
Topics: Female; Genes, Recessive; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Metabo | 1992 |