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A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

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Title: A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
Authors: Savvidou A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Sofou K; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Thunström S; The Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Ygberg S; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Eklund EA; Section for Pediatrics, Department of Clinical Sciences, Lund University, Sweden., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Kollberg G; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Sweden; and.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden., Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.
Source: Neurology [Neurology] 2026 May 12; Vol. 106 (9), pp. e214924. Date of Electronic Publication: 2026 Apr 14.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
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  Data: A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
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  Data: <searchLink fieldCode="AU" term="%22Savvidou+A%22">Savvidou A</searchLink>; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Sofou+K%22">Sofou K</searchLink>; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Thunström+S%22">Thunström S</searchLink>; The Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Ygberg+S%22">Ygberg S</searchLink>; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Eklund+EA%22">Eklund EA</searchLink>; Section for Pediatrics, Department of Clinical Sciences, Lund University, Sweden.<br /><searchLink fieldCode="AU" term="%22Naess+K%22">Naess K</searchLink>; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Neuropediatric Unit, Astrid Lindgren Children's Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kollberg+G%22">Kollberg G</searchLink>; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Sweden; and.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Darin+N%22">Darin N</searchLink>; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.; Department of Pediatrics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.
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  Data: <searchLink fieldCode="JN" term="%220401060%22">Neurology</searchLink> [Neurology] 2026 May 12; Vol. 106 (9), pp. e214924. <i>Date of Electronic Publication: </i>2026 Apr 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0401060 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1526-632X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200283878%22">00283878 </searchLink><i>NLM ISO Abbreviation: </i>Neurology <i>Subsets: </i>MEDLINE
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              Text: 2026 May 12
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