Article
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Journal of inherited metabolic disease - 1 Jul 2025
Chung Hak, Choi Dongseok, Gregor Ashley, Sim Elaine, Lau Alison, Black Danielle, Scanga Hannah L, Linshinski Angela, Pennesi Mark E, Sahel Jose-Alain, Nischal Ken K, Yang Paul, Everett Lesley, Vockley Jerry, Matern Dietrich, Harding Cary O, Gillingham Melanie B
Abstract excerpt
3-hydroxy acylcarnitines (3-OH-ACs) are key biomarkers for screening of long-chain 3-hydroxyacyl-CoA dehydrogenase and trifunctional protein deficiencies (LCHADD/TFPD). The utility of this biomarker for disease monitoring in identified patients remains debated, and recent suggestions have highlighted the potential use of lipidomics for diagnosis, monitoring, prognosis, and/or identification of new biomarkers. We...
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