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Isovaleric acidemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Isovaleryl CoA dehydrogenase, a member of the acylCoA dehydrogenase family, is made as a 45 kDa subunit precursor [60] and processed to a 43 kDa during import into the mitochondria and then assembled as a tetramer. It is a flavine adenine dinucleotide (FAD)-containing enzyme, whose electrons are transferred to electron transfer flavoprotein (ETF) and transmitted to coenzyme Q of the electron transport chain by ETF dehydrogenase [61].
Organic acid disorders and disorders of fatty acid oxidation
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Isovaleric acidaemia is a rare metabolic disorder that belongs to a group of conditions known as the organic acidaemias. It is caused by a deficiency of the enzyme isovaleryl CoA dehydrogenase (IVD), which is needed by the body to break down the amino acid leucine. In the body, leucine is then taken from the bloodstream and converted into isovaleryl CoA. If there is a deiciency of the IVD enzyme, isovaleryl CoA accumulates in the blood and is converted into other compounds that are toxic to the body. One of these compounds is an organic acid known as isovaleric acid, which causes a characteristic odour when individuals have an acute metabolic crisis.
Beyond the amyloid hypothesis: how current research implicates autoimmunity in Alzheimer’s disease pathogenesis
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Miyo K. Chatanaka, Dorsa Sohaei, Eleftherios P. Diamandis, Ioannis Prassas
San Segundo-Acosta et al. did another study on autoantibodies in AD by using ELISA, protein microarrays, and MS [228]. A total of 128 serum samples were used (77 AD, 51 HC). For the screening process, they used a 42,100 planar protein-epitope signature tag (PrEST) microarray and a 384-PrEST microarray, as well as an LC-MS/MS method. For the validation process, they used ELISA and PrEST. They validated the seroreactivity of three autoantibody candidates: isovaleryl-CoA dehydrogenase (IVD) (p < 0.01), cytoplasmic FMR1-interacting protein 1 (CYFIP1) (p < 0.01), and beta adducin protein (ADD2) (p < 0.01), for potential diagnostic ability. Although the results were significant, there were overlapping values between diseased and control groups, and the overall sensitivity and specificity of the autoantibodies were low, at around 50–70%. However, when combining the 3 autoantibodies, the overall sensitivity and specificity increased to 85.9 and 68.6%, respectively for the discrimination of AD from HC.