A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous
Ketoacidosis
OXCT1
ketone body metabolism
Journal
Yonsei medical journal
ISSN: 1976-2437
Titre abrégé: Yonsei Med J
Pays: Korea (South)
ID NLM: 0414003
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
04
10
2018
revised:
02
01
2019
accepted:
06
01
2019
entrez:
26
2
2019
pubmed:
26
2
2019
medline:
26
3
2019
Statut:
ppublish
Résumé
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the
Identifiants
pubmed: 30799594
pii: 60.308
doi: 10.3349/ymj.2019.60.3.308
pmc: PMC6391521
doi:
Substances chimiques
Ketone Bodies
0
Coenzyme A-Transferases
EC 2.8.3.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
308-311Informations de copyright
© Copyright: Yonsei University College of Medicine 2019.
Déclaration de conflit d'intérêts
The authors have no potential conflicts of interest to disclose.
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