{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:25:33Z","timestamp":1786116333359,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100009757","name":"H.K.H. Kronprinsessan Lovisas F\u00f6rening f\u00f6r Barnasjukv\u00e5rd","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009757","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"ABSTRACT<\/jats:title>\n \n Objective<\/jats:title>\n The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Forty\u2010two individuals with genetically confirmed PDCD (86%\n PDHA1<\/jats:italic>\n \u2010related disease) were identified from a nationwide epidemiological study and were included in this cross\u2010sectional study comprising systematic neurological evaluations (\n n<\/jats:italic>\n \u2009=\u200941) and caregiver interviews assessing adaptive behavior (\n n<\/jats:italic>\n \u2009=\u200935).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Intellectual disability was detected in 33\/42 (79%) individuals, while 31\/35 (89%) demonstrated significant impairments in adaptive functioning. Although 27\/39 (69%) were ambulatory, only 8\/39 (21%) demonstrated age\u2010appropriate walking ability. Clinical signs of polyneuropathy were observed in 24\/41 (59%), bulbar symptoms in 22\/41 (54%), spasticity in 19\/41 (46%), ataxia in 13\/41 (32%), and dystonia in 9\/41 (22%). Lifetime epilepsy was present in 16\/41 (39%) of individuals. Ketogenic diet treatment, administered to 30 individuals, was effective in both prenatal\u2010 and postnatal\u2010onset disease. Seizure frequency decreased in individuals with epilepsy (8\/9; 89%) and relapses of dystonia, ataxia, exercise intolerance, and lactic acidosis were prevented in all affected individuals (15\/15). Improvements in communication and motor function were also noted.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n Intellectual disability and deficits in adaptive behavior are frequent in PDCD, although cognitive outcomes are more heterogeneous among individuals with postnatal onset. Prenatal onset and epilepsy are associated with severe\u2010profound intellectual disability. Although most are ambulatory, motor deficits are frequent. A ketogenic diet treatment is a safe and effective therapeutic option, contributing to both seizure control and remission of neurological deterioration relapses.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/acn3.70510","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T09:34:40Z","timestamp":1786008880000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0955-7724","authenticated-orcid":false,"given":"Antri","family":"Savvidou","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden"},{"name":"Department of Pediatric Neurology and Psychiatry, Sahlgrenska University Hospital Gothenburg, Region V\u00e4stra G\u00f6taland Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5135-383X","authenticated-orcid":false,"given":"Colin","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden"},{"name":"Department of Pediatric Neurology and Psychiatry, Sahlgrenska University Hospital Gothenburg, Region V\u00e4stra G\u00f6taland Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5899-7745","authenticated-orcid":false,"given":"Kalliopi","family":"Sofou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden"},{"name":"Department of Pediatric Neurology and Psychiatry, Sahlgrenska University Hospital Gothenburg, Region V\u00e4stra G\u00f6taland Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3854-2716","authenticated-orcid":false,"given":"Sofia","family":"Ygberg","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics Karolinska Institute Stockholm Sweden"},{"name":"Neuropediatric Unit Astrid Lindgren Children's Hospital Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1902-4865","authenticated-orcid":false,"given":"Erik A.","family":"Eklund","sequence":"additional","affiliation":[{"name":"Section for Pediatrics, Department of Clinical Sciences Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4310-7927","authenticated-orcid":false,"given":"Karin","family":"Naess","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Department of Medical Biochemistry and Biophysics Karolinska Institute Stockholm Sweden"},{"name":"Neuropediatric Unit Astrid Lindgren Children's Hospital Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4591-6189","authenticated-orcid":false,"given":"Niklas","family":"Darin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden"},{"name":"Department of Pediatric Neurology and Psychiatry, Sahlgrenska University Hospital Gothenburg, Region V\u00e4stra G\u00f6taland Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,6]]},"reference":[{"issue":"14","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"3224","DOI":"10.1096\/fasebj.4.14.2227213","article-title":"Molecular Biology and Biochemistry of Pyruvate Dehydrogenase Complexes","volume":"4","author":"Patel M. 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