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methylmalonic acid and Hyper IgD Syndrome

methylmalonic acid has been researched along with Hyper IgD Syndrome 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 Excerpts

ExcerptRelevanceReference
"Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or indirectly by inhibition of mitochondrial energy metabolism (MMA)."1.35Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. ( Baumgartner, ER; Haas, D; Hoffmann, GF; Hörster, F; Menke, T; Niklowitz, P; Okun, JG; Prasad, C; Rodenburg, RJ, 2009)

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
Haas, D1
Niklowitz, P1
Hörster, F1
Baumgartner, ER1
Prasad, C1
Rodenburg, RJ1
Hoffmann, GF1
Menke, T1
Okun, JG1

Other Studies

1 other study available for methylmalonic acid and Hyper IgD Syndrome

ArticleYear
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.
    Journal of inherited metabolic disease, 2009, Volume: 32, Issue:4

    Topics: Case-Control Studies; Cells, Cultured; Down-Regulation; Female; Fibroblasts; Humans; Metabolism, Inb

2009