Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Glutaric acid
Glutaric aciduria
Inbred mouse strains
Lysine
Mouse genetics
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
13
11
2020
revised:
05
01
2021
accepted:
06
01
2021
pubmed:
24
1
2021
medline:
10
8
2021
entrez:
23
1
2021
Statut:
ppublish
Résumé
The glutaric acidurias are a group of inborn errors of metabolism with different etiologies. Glutaric aciduria type 3 (GA3) is a biochemical phenotype with uncertain clinical relevance caused by a deficiency of succinyl-CoA:glutarate-CoA transferase (SUGCT). SUGCT catalyzes the succinyl-CoA-dependent conversion of glutaric acid into glutaryl-CoA preventing urinary loss of the organic acid. Here, we describe the presence of a GA3 trait in mice of 129 substrains due to SUGCT deficiency, which was identified by screening of urine organic acid profiles obtained from different inbred mouse strains including 129S2/SvPasCrl. Molecular and biochemical analyses in an F2 population of the parental C57BL/6J and 129S2/SvPasCrl strains (B6129F2) confirmed that the GA3 trait occurred in Sugct
Identifiants
pubmed: 33483254
pii: S1096-7192(21)00005-6
doi: 10.1016/j.ymgme.2021.01.004
pii:
doi:
Substances chimiques
Glutarates
0
Oxidoreductases
EC 1.-
Transferases
EC 2.-
Acyltransferases
EC 2.3.-
succinyl-CoA-tetrahydrodipicolinate N-succinyltransferase
EC 2.3.1.117
glutaric acid
H849F7N00B
Lysine
K3Z4F929H6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
139-145Informations de copyright
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