Molecular Genetics and Metabolism Reports (Mar 2021)
Leigh syndrome associated with TRMU gene mutations
- Júlia Sala-Coromina,
- Lucía Dougherty-de Miguel,
- Javier de las Heras,
- Amaia Lasa-Aranzasti,
- Elena Garcia-Arumi,
- Lidia Carreño,
- Jose Antonio Arranz,
- Clara Carnicer,
- María Unceta-Suárez,
- Angel Sanchez-Montañez,
- Laura Gort,
- Frederic Tort,
- Mireia del Toro
Affiliations
- Júlia Sala-Coromina
- Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- Lucía Dougherty-de Miguel
- Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- Javier de las Heras
- Division of Pediatric Metabolism, Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER; University of the Basque Country (UPV/EHU), Spain
- Amaia Lasa-Aranzasti
- Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- Elena Garcia-Arumi
- Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
- Lidia Carreño
- Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
- Jose Antonio Arranz
- Metabolic Laboratory, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- Clara Carnicer
- Metabolic Laboratory, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- María Unceta-Suárez
- Biochemistry Laboratory (Metabolism Area), Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER, University of the Basque Country (UPV/EHU), Spain
- Angel Sanchez-Montañez
- Pediatric Neuroradiology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain
- Laura Gort
- Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Inborn Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, Spain
- Frederic Tort
- Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Inborn Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, Spain
- Mireia del Toro
- Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Corresponding author at: Pediatric Neurology Department, Vall d'Hebron University Hospital, Passeig de la Vall d'Hebron, 119-129, Barcelona 08035, Spain.
- Journal volume & issue
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Vol. 26
p. 100690
Abstract
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.
