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methylmalonic acid and Gangliosidoses, GM2

methylmalonic acid has been researched along with Gangliosidoses, GM2 in 1 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.

Gangliosidoses, GM2: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Sasaki, M1
Sakuragawa, N1

Reviews

1 review available for methylmalonic acid and Gangliosidoses, GM2

ArticleYear
[Inherited metabolic disorders accompanied with epileptic manifestations].
    Ryoikibetsu shokogun shirizu, 2002, Issue:37 Pt 6

    Topics: Epilepsy; Gangliosidoses, GM2; Gaucher Disease; Humans; Infant; Infant, Newborn; Leukodystrophy, Glo

2002