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

doi:10.1016/j.ymgmr.2020.100690

Leigh syndrome associated with TRMU gene mutations

Mol Genet Metab Rep. 2020 Dec 15:26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar.

Authors

Júlia Sala-Coromina¹, Lucía Dougherty-de Miguel¹, Javier de Las Heras², Amaia Lasa-Aranzasti³, Elena Garcia-Arumi^{3

4

5}, Lidia Carreño^{4

5}, Jose Antonio Arranz⁶, Clara Carnicer⁶, María Unceta-Suárez⁷, Angel Sanchez-Montañez⁸, Laura Gort^{5

9}, Frederic Tort^{5

9}, Mireia Del Toro^{1

5}

Affiliations

¹ Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.
² Division of Pediatric Metabolism, Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER; University of the Basque Country (UPV/EHU), Spain.
³ Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.
⁴ Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Barcelona, Spain.
⁵ Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
⁶ Metabolic Laboratory, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.
⁷ Biochemistry Laboratory (Metabolism Area), Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER, University of the Basque Country (UPV/EHU), Spain.
⁸ Pediatric Neuroradiology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.
⁹ 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.

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.

Keywords: Acute liver failure; Leigh syndrome; Mitochondrial disease; TRMU.