Leigh syndrome associated with TRMU gene mutations.
Acute liver failure
Leigh syndrome
Mitochondrial disease
TRMU
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
15
09
2020
revised:
19
11
2020
accepted:
24
11
2020
entrez:
28
12
2020
pubmed:
29
12
2020
medline:
29
12
2020
Statut:
epublish
Résumé
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease.
Identifiants
pubmed: 33365252
doi: 10.1016/j.ymgmr.2020.100690
pii: S2214-4269(20)30136-1
pmc: PMC7749400
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100690Informations de copyright
© 2020 The Authors.
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