Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
dihydrolipoamide dehydrogenase deficiency
lipoic acid
lysine degradation
mitochondrial disorder
urine organic acid analysis
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
16
05
2023
revised:
29
06
2023
accepted:
03
07
2023
medline:
13
9
2023
pubmed:
13
9
2023
entrez:
13
9
2023
Statut:
epublish
Résumé
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 dehydrogenase, and 2-oxoadipate dehydrogenase. DLD deficiency (DLDD) is caused by biallelic pathogenic variants in
Identifiants
pubmed: 37701333
doi: 10.1002/jmd2.12382
pii: JMD212382
pmc: PMC10494496
doi:
Types de publication
Journal Article
Langues
eng
Pagination
367-374Informations de copyright
© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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