BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

Autor: Tangeraas T; Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; European Reference Network for Hereditary Metabolic Diseases (MetabERN)., Constante JR; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Backe PH; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Department of Microbiology, Clinic for Diagnostics and Intervention, Oslo University Hospital, Rikshospitalet, Nydalen, N-0424 Oslo, Norway., Oyarzábal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Neugebauer J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Weinhold N; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Boemer F; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Biochemical Genetics Laboratory, Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Debray FG; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Ozturk-Hism B; Department of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul 34854, Turkey., Evren G; Department of Medical Genetics, University of Harran, 63000 Sanliurfa, Turkey., Tuba EF; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Ummuhan O; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Footitt E; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Davison J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Martinez C; Department of Pediatrics and Psychiatry, The Mount Sinai Hospital, New York, NY 1468, USA., Bueno C; Department of Neurology, Clinical Hospital of the Faculty of Medicine, University of São Paulo, São Paulo 05403-010, Brazil., Machado I; Neuropediatric Department, Hospital Universitario Clínico San Cecilio, Granada 18016, Spain., Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Al-Sannaa N; Pediatric Services Division, Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia., De Los Santos M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Neurometabolic Unit, Department of Gastroenterology and Nutrition, Sant Joan de Déu Hospital, Barcelona 08950, Spain., López JM; Institut de Recerca Sant Joan de Déu, Pediatric Radiology Department Esplugues de Llobregat, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ozturkmen-Akay H; Department of Radiology, Baskent University School of Medicine, Ankara 06790, Turkey., Karaca M; Department of Pediatric Metabolic Diseases, University of Harran, Sanliurfa 63000, Turkey., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P.Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Pajares S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, Barcelona 08036, Spain., Ormazabal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55905, USA., Artuch R; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Dixon M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N, 3JH, UK., Mørkrid L; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Nydalen, Oslo 0424, Norway., García-Cazorla A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 3003-3013.