Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
6‐oxo‐pipecolic acid
ALDH7A1 deficiency
aminoadipic semialdehyde
piperideine‐6‐carboxylate
pyridoxine‐dependent epilepsy
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
22 Jul 2024
22 Jul 2024
Historique:
revised:
20
06
2024
received:
20
03
2024
accepted:
08
07
2024
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
22
7
2024
Statut:
aheadofprint
Résumé
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (α-AASA) and Δ
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Health of the Czech Republic
ID : AZV NU23-07-00383
Organisme : Ministry of Health of the Czech Republic
ID : RVO-VFN64165
Organisme : Charles University
Organisme : Eunice Kennedy Shriver National Institute of Child Health & Human Development
ID : R21HD104952
Informations de copyright
© 2024 The Author(s). Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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