methylmalonic acid has been researched along with Gaucher Disease in 3 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.
Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Basgalupp, SP | 1 |
| Siebert, M | 1 |
| Ferreira, C | 1 |
| Behringer, S | 1 |
| Spiekerkoetter, U | 1 |
| Hannibal, L | 1 |
| Schwartz, IVD | 1 |
| Sasaki, M | 1 |
| Sakuragawa, N | 1 |
| Gielchinsky, Y | 1 |
| Elstein, D | 1 |
| Green, R | 1 |
| Miller, JW | 1 |
| Elstein, Y | 1 |
| Algur, N | 1 |
| Lahad, A | 1 |
| Shinar, E | 1 |
| Abrahamov, A | 1 |
| Zimran, A | 1 |
1 review available for methylmalonic acid and Gaucher Disease
| Article | Year |
|---|---|
[Inherited metabolic disorders accompanied with epileptic manifestations].
Topics: Epilepsy; Gangliosidoses, GM2; Gaucher Disease; Humans; Infant; Infant, Newborn; Leukodystrophy, Glo | 2002 |
2 other studies available for methylmalonic acid and Gaucher Disease
| Article | Year |
|---|---|
Assessment of cellular cobalamin metabolism in Gaucher disease.
Topics: beta-Glucosidase; Cell Culture Techniques; Female; Fibroblasts; Gaucher Disease; Glucosylceramidase; | 2020 |
High prevalence of low serum vitamin B12 in a multi-ethnic Israeli population.
Topics: Adult; Arabs; Blood Donors; Case-Control Studies; Chi-Square Distribution; Female; Gaucher Disease; | 2001 |