The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
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| Title: | The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. |
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| Authors: | Merkevicius K; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Faculty of Medicine, Clinic of Paediatrics, Institute of Clinical Medicine, Vilnius University, Vilnius 03101, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, Vilnius 10257, Lithuania., Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Feichtinger RG; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, Weifang 261000, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City 266-0007, Japan., Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland., Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland., Schröder S; CENTOGENE GmbH, Rostock 18055, Germany., Bauer P; CENTOGENE GmbH, Rostock 18055, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, Rostock 18051, Germany.; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University, 171-252 Szczecin, Poland., Bertoli-Avella A; CENTOGENE GmbH, Rostock 18055, Germany., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark., Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, Reutlingen 72764, Germany., Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands., Wagner M; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany., Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Lifera Omics, Riyadh 11452, Saudi Arabia., AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria., Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, Bucharest 050474, Romania., Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, Madrid 28041, Spain., Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, Tübingen 72016, Germany., Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich 8008, Switzerland., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany., Bouchereau J; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius 03101, Lithuania., Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Casas K; Sanford Health, Medical Genetics, Fargo, North Dakota 58103, USA., Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland., De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, Paris 75015, France., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Children's Hospital, Heinrich-Heine-University, Düsseldorf 40225, Germany., Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, Lisboa 1169-045, Portugal., Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gokçay GF; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul 34390, Turkey., Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, Zürich 8032, Switzerland., Heath O; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, Karlsruhe 76133, Germany., Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, Munich 80336, Germany., Hoffmann GF; Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, University Hospital Heidelberg, Heidelberg 69120, Germany., Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Praha, Czech Republic., Huemer M; Department of Paediatrics, LKH Bregenz, Bregenz 6900, Austria.; Division of Metabolism, University Children's Hospital, Zürich 8008, Switzerland., Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, Lisboa 1169-045, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Lisboa 1649-028, Portugal., Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara 06800, Türkiye., Kern I; Department of Pediatrics, Geneva University Hospital, Geneva 1205, Switzerland., Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, Aschaffenburg 63739, Germany., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich 80336, Germany.; German Center for Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland., Koch J; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga LV-1007, Latvia., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre 94270, France., Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, Munich 80337, Germany., Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest 1085, Hungary., Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK., Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels 1200, Belgium., Oliveira A; Medicine Department, Santa Maria University Hospital, Lisbon 1649-028, Portugal., Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH 44195, USA., Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia., Pichard S; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria., Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Repetto GM; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago 7550000, Chile., Rivera I; Faculdade de Farmácia, iMed.ULisboa-Instituto de Investigação do Medicamento, Universidade de Lisboa, Lisbon 1649-003, Portugal., Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands., Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', Naples 80131, Italy., Schiff M; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Hannover 30625, Germany., Smith WE; Division of Genetics, MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Portland, ME 04102, USA., Soares S; Neuropediatrics Unit, of the Pediatrics Department, Pedro Hispano Hospital, ULSM, Matosinhos 4464, Portugal., Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Steinbrucker K; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw 01-211, Poland., Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey., Hoytema van Konijnenburg E; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht 3584 EA, The Netherlands., Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia., Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey., Zenker M; Institute of Human Genetics, University Hospital, Magdeburg 39120, Germany., Zsidegh P; Bókay Street Department, Pediatric Centre, Semmelweis University, Budapest 1083, Hungary., Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria., Sperl W; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany., Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford OX3 7LE, UK., Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, Munich 80337, Germany., Mayr JA; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria., Wortmann SB; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria. |
| Source: | Brain : a journal of neurology [Brain] 2026 Jul 07; Vol. 149 (7), pp. 2344-2362. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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