Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

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
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
Series:JIMD Reports
Subjects:
dihydrolipoamide dehydrogenase deficiency
lipoic acid
lysine degradation
mitochondrial disorder
urine organic acid analysis
Online Access:https://doi.org/10.1002/jmd2.12382

Internet

https://doi.org/10.1002/jmd2.12382

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