Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

Abstract Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate dehydrogenase, branched‐chain α‐keto‐acid dehyd...

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Bibliographic Details

Published in:	JIMD Reports
Main Authors:	Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky
Format:	Article
Language:	English
Published:	Wiley 2023-09-01
Subjects:	dihydrolipoamide dehydrogenase deficiency lipoic acid lysine degradation mitochondrial disorder urine organic acid analysis
Online Access:	https://doi.org/10.1002/jmd2.12382