Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via
Journal
Pediatric research
ISSN: 1530-0447
Titre abrégé: Pediatr Res
Pays: United States
ID NLM: 0100714
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
received:
08
09
2021
accepted:
24
01
2022
revised:
21
01
2022
pubmed:
10
2
2022
medline:
30
11
2022
entrez:
9
2
2022
Statut:
ppublish
Résumé
The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods. Peripheral blood mononuclear cells obtained from 14 VLCAD deficiency patients and 23 healthy adults were loaded with carbon-13-universally labeled (U- There was a significant decrease in the Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify patients at a risk of severe disease. We established a novel method to predict the severity of VLCAD deficiency by performing a loading test with carbon-13-labeled fatty acids on peripheral blood mononuclear cells. The U-
Sections du résumé
BACKGROUND
The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods.
METHODS
Peripheral blood mononuclear cells obtained from 14 VLCAD deficiency patients and 23 healthy adults were loaded with carbon-13-universally labeled (U-
RESULTS
There was a significant decrease in the
CONCLUSIONS
Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify patients at a risk of severe disease.
IMPACT
We established a novel method to predict the severity of VLCAD deficiency by performing a loading test with carbon-13-labeled fatty acids on peripheral blood mononuclear cells. The U-
Identifiants
pubmed: 35136200
doi: 10.1038/s41390-022-01979-z
pii: 10.1038/s41390-022-01979-z
doi:
Substances chimiques
Carbon-13
FDJ0A8596D
acylcarnitine
0
Carnitine
S7UI8SM58A
Fatty Acids
0
Stearic Acids
0
Oleic Acids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1391-1399Informations de copyright
© 2022. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.
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