Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
ACO2 mutation
anaplerotic therapy
case report
citric acid cycle
triheptanoin
Journal
Metabolites
ISSN: 2218-1989
Titre abrégé: Metabolites
Pays: Switzerland
ID NLM: 101578790
Informations de publication
Date de publication:
20 Apr 2024
20 Apr 2024
Historique:
received:
10
03
2024
revised:
01
04
2024
accepted:
17
04
2024
medline:
26
4
2024
pubmed:
26
4
2024
entrez:
26
4
2024
Statut:
epublish
Résumé
Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The
Identifiants
pubmed: 38668366
pii: metabo14040238
doi: 10.3390/metabo14040238
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : European Joint Programme on Rare Diseases
ID : EJPRD19-145 GENOMIT I4695-B