Page last updated: 2024-10-17

methylmalonic acid and Genetic Diseases, X-Chromosome Linked

methylmalonic acid has been researched along with Genetic Diseases, X-Chromosome Linked 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.

Research

Studies (1)

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

Authors

AuthorsStudies
Scalais, E1
Osterheld, E1
Weitzel, C1
De Meirleir, L1
Mataigne, F1
Martens, G1
Shaikh, TH1
Coughlin, CR1
Yu, HC1
Swanson, M1
Friederich, MW1
Scharer, G1
Helbling, D1
Wendt-Andrae, J1
Van Hove, JLK1

Other Studies

1 other study available for methylmalonic acid and Genetic Diseases, X-Chromosome Linked

ArticleYear
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
    Pediatric neurology, 2017, Volume: 71

    Topics: Biomarkers; Brain; Diagnosis, Differential; Genetic Diseases, X-Linked; Glycine; Humans; Hyperglycin

2017