Page last updated: 2024-10-19

thioctic acid and BCKD Deficiency

thioctic acid has been researched along with BCKD Deficiency in 3 studies

Thioctic Acid: An octanoic acid bridged with two sulfurs so that it is sometimes also called a pentanoic acid in some naming schemes. It is biosynthesized by cleavage of LINOLEIC ACID and is a coenzyme of oxoglutarate dehydrogenase (KETOGLUTARATE DEHYDROGENASE COMPLEX). It is used in DIETARY SUPPLEMENTS.

Research Excerpts

ExcerptRelevanceReference
"PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations."1.36Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( Briones, P; Font, A; Pineda, M; Quintana, E; Ribes, A; Tort, F; Vilaseca, MA, 2010)

Research

Studies (3)

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

Authors

AuthorsStudies
Quintana, E1
Pineda, M1
Font, A1
Vilaseca, MA1
Tort, F1
Ribes, A1
Briones, P1
Brautigam, CA1
Chuang, JL1
Tomchick, DR1
Machius, M1
Chuang, DT1
Elsas, LJ1
Pask, BA1
Wheeler, FB1
Perl, DP1
Truster, S1

Other Studies

3 other studies available for thioctic acid and BCKD Deficiency

ArticleYear
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult

2010
Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.
    Journal of molecular biology, 2005, Jul-15, Volume: 350, Issue:3

    Topics: Binding Sites; Catalysis; Cloning, Molecular; Crystallography, X-Ray; Databases, Protein; Dihydrolip

2005
Classical maple syrup urine disease: cofactor resistance.
    Metabolism: clinical and experimental, 1972, Volume: 21, Issue:10

    Topics: Amino Acids; Carbon Isotopes; Cells, Cultured; Coenzyme A; Coenzymes; Female; Fibroblasts; Flavin-Ad

1972