L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.
TRMU
cysteine
hepatopathy
liver transplant
mitochondrial
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:
Jun 2019
Jun 2019
Historique:
received:
27
11
2018
revised:
22
01
2019
accepted:
23
01
2019
entrez:
12
2
2019
pubmed:
12
2
2019
medline:
12
2
2019
Statut:
epublish
Résumé
Early recognition of rare mitochondrial respiratory chain defects has become readily available with the routine use of whole exome sequencing. Patients with oxidative phosphorylation defects present with a heterogenous phenotype, often rapidly progressive, and lethal. Clinicians aim for prompt identification of the specific molecular defect to provide timely management, decrease morbidity, and potentially improve survival rates. More recently, bi-allelic pathogenic variants in the
Identifiants
pubmed: 30740308
doi: 10.1016/j.ymgmr.2019.100453
pii: S2214-4269(18)30133-2
pii: 100453
pmc: PMC6355510
doi:
Types de publication
Case Reports
Langues
eng
Pagination
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