Editing Lipoic acid (section)

== Diseases ==

=== Combined malonic and methylmalonic aciduria (CMAMMA) ===
In the metabolic disease [[combined malonic and methylmalonic aciduria]] (CMAMMA) due to [[ACSF3]] deficiency, [[mitochondrial fatty acid synthesis]] (mtFAS), which is the precursor reaction of lipoic acid biosynthesis, is impaired.<ref>{{Cite journal |last1=Levtova |first1=Alina |last2=Waters |first2=Paula J. |last3=Buhas |first3=Daniela |last4=Lévesque |first4=Sébastien |last5=Auray-Blais |first5=Christiane |author-link5=Christiane Auray |last6=Clarke |first6=Joe T.R. |last7=Laframboise |first7=Rachel |last8=Maranda |first8=Bruno |last9=Mitchell |first9=Grant A. |last10=Brunel-Guitton |first10=Catherine |last11=Braverman |first11=Nancy E. |date=2019 |title=Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort |url=https://onlinelibrary.wiley.com/doi/10.1002/jimd.12032 |journal=Journal of Inherited Metabolic Disease |language=en |volume=42 |issue=1 |pages=107–116 |doi=10.1002/jimd.12032 |issn=0141-8955 |pmid=30740739 |s2cid=73436689}}</ref><ref name=":0">{{Cite journal |last1=Wehbe |first1=Zeinab |last2=Behringer |first2=Sidney |last3=Alatibi |first3=Khaled |last4=Watkins |first4=David |last5=Rosenblatt |first5=David |last6=Spiekerkoetter |first6=Ute |last7=Tucci |first7=Sara |date=2019-11-01 |title=The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism |url=https://www.sciencedirect.com/science/article/pii/S1388198119301349 |journal=Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids |volume=1864 |issue=11 |pages=1629–1643 |doi=10.1016/j.bbalip.2019.07.012 |pmid=31376476 |s2cid=199404906 |issn=1388-1981}}</ref> The result is a reduced [[Post-translational modification#PTMs involving addition of functional groups|lipoylation]] degree of important mitochondrial enzymes, such as [[pyruvate dehydrogenase complex]] (PDC) and [[Oxoglutarate dehydrogenase complex|α-ketoglutarate dehydrogenase complex]] (α-KGDHC).<ref name=":0" /> Supplementation with lipoic acid does not restore mitochondrial function.<ref>{{Cite journal |last1=Hiltunen |first1=J. Kalervo |last2=Autio |first2=Kaija J. |last3=Schonauer |first3=Melissa S. |last4=Kursu |first4=V.A. Samuli |last5=Dieckmann |first5=Carol L. |last6=Kastaniotis |first6=Alexander J. |date=2010 |title=Mitochondrial fatty acid synthesis and respiration |url=https://linkinghub.elsevier.com/retrieve/pii/S000527281000112X |journal=Biochimica et Biophysica Acta (BBA) - Bioenergetics |language=en |volume=1797 |issue=6–7 |pages=1195–1202 |doi=10.1016/j.bbabio.2010.03.006|pmid=20226757 }}</ref><ref name=":0" />