Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 (BCAT2) deficiency I. Knerr, 1 R. Colombo, 2 J. Urquhart, 3 A. Morais, 4 B. Merinero, 4 A. Oyarzabal, 4 B. Pérez, 4 S. A. Jones, 3,5 R. Perveen, 5 M. A. Preece, 6 Y. Rogers, 1 E. P. Treacy, 1,7 P. Mayne, 8 G. Zampino, 9 S.MacKinnon, 10 E. Wassmer, 6 W.W. Yue, 10 I. Robinson, 11 P. Rodríguez-Pombo, 4 S. E. Olpin, 12 S. Banka 3,5 1. National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland. 2. Institute of Clinical Biochemistry, Faculty of Medicine Catholic University of the Sacred Heart, Rome, Italy, and Policlinico Agostino Gemelli, Rome, and Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy. 3. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, U.K. 4. Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Departamento de Biología Molecular, Universidad Autónoma Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid, Spain. 5. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, U.K. 6. Children’s Hospital, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, U.K. 7. Adult Metabolic Service, Mater Misericordiae University Hospital, Dublin, Ireland. 8. Department of Biochemistry, Temple Street Children’s University Hospital, Dublin, Ireland. 9. Department of Paediatrics, Catholic University of the Sacred Heart, and Center for Rare Diseases, Policlinico Agostino Gemelli, Rome, Italy. 10. Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford, U.K. 11. Department of Radiology, Temple Street Children’s University Hospital, Dublin, Ireland. 12. Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, U.K. Correspondence: This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/jimd.12135 This article is protected by copyright. All rights reserved.