Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
Adolescent
Amino Acid Metabolism, Inborn Errors
/ blood
Amino Acids, Branched-Chain
/ deficiency
Body Fat Distribution
Cardiometabolic Risk Factors
Case-Control Studies
Child
Cluster Analysis
Energy Metabolism
Female
Humans
Insulin Resistance
Isovaleryl-CoA Dehydrogenase
/ blood
Liver
/ metabolism
Magnetic Resonance Spectroscopy
Male
Muscle, Skeletal
/ metabolism
Propionic Acidemia
/ blood
Young Adult
cardiometabolic
fatty liver
metabolic syndrome
mitochondria
organic acidemia
oxidative stress
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:
09 2020
09 2020
Historique:
received:
13
10
2019
revised:
20
02
2020
accepted:
21
02
2020
pubmed:
3
3
2020
medline:
6
10
2021
entrez:
3
3
2020
Statut:
ppublish
Résumé
Classical organic acidemias (OAs) result from defective mitochondrial catabolism of branched-chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether genetically impaired function of mitochondrial BCAA catabolism associates with cardiometabolic risk factors, altered liver and muscle energy metabolism, and IR. In this case-control study, 31 children and young adults with propionic acidemia (PA), methylmalonic acidemia (MMA) or isovaleric acidemia (IVA) were compared with 30 healthy young humans using comprehensive metabolic phenotyping including in vivo
Substances chimiques
Amino Acids, Branched-Chain
0
Isovaleryl-CoA Dehydrogenase
EC 1.3.8.4
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
981-993Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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