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methylmalonic acid and Carboxylase Deficiency, Combined

methylmalonic acid has been researched along with Carboxylase Deficiency, Combined 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.

Research Excerpts

ExcerptRelevanceReference
"Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases)."1.33Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. ( Hasegawa, Y; Hori, D; Kimura, M; Verma, IC; Yamaguchi, S; Yang, Y, 2005)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Hori, D1
Hasegawa, Y1
Kimura, M1
Yang, Y1
Verma, IC1
Yamaguchi, S1
Evans, MI2
Schulman, JD2

Reviews

1 review available for methylmalonic acid and Carboxylase Deficiency, Combined

ArticleYear
In utero treatment of fetal metabolic disorders.
    Clinical obstetrics and gynecology, 1991, Volume: 34, Issue:2

    Topics: Adrenal Hyperplasia, Congenital; Female; Fetal Diseases; Humans; Metabolism, Inborn Errors; Methylma

1991

Other Studies

2 other studies available for methylmalonic acid and Carboxylase Deficiency, Combined

ArticleYear
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
    Brain & development, 2005, Volume: 27, Issue:1

    Topics: Adolescent; Age of Onset; Asia; Carboxylic Acids; Child; Child, Preschool; Disease Progression; Drug

2005
Biochemical fetal therapy.
    Clinical obstetrics and gynecology, 1986, Volume: 29, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Adult; Arrhythmias, Cardiac; Copper; Female; Fetal Diseases; Galact

1986