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The AADAT gene is located on chromosome 4q33 and is composed of 18 exons that generate four alternatively spliced mRNAs that collectively encode two proteins isoforms of 429 amino acids (isoform a) and 425 amino acids (isoform b) The 2-oxoadipic acid then undergoes oxidative decarboxylation to glutaryl-CoA via the actions of the 2-oxoadipate dehydrogenase complex

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This ratio represents not only a marker of metabolic derangement but also the critical breakpoint in the chain linking fatty acid input to energy output

[DOI] [PubMed] [Google Scholar] Norberg MM, Krystal JH, Tolin DF