{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T07:55:18Z","timestamp":1781682918570,"version":"3.54.5"},"reference-count":18,"publisher":"Norwegian Medical Association","issue":"15","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tidsskr Nor Legeforen","Tidsskriftet"],"DOI":"10.4045\/tidsskr.18.0988","type":"journal-article","created":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T09:07:39Z","timestamp":1571821659000},"source":"Crossref","is-referenced-by-count":3,"title":["Pyruvatdehydrogenase-mangel"],"prefix":"10.4045","volume":"139","author":[{"given":"Sigrid","family":"Pedersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yngve Thomas","family":"Bliksrud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaja Kristine","family":"Selmer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette","family":"Ramm-Pettersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2479","published-online":{"date-parts":[[2019,10,14]]},"reference":[{"key":"ref=1","doi-asserted-by":"crossref","unstructured":"Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases. Diagnosis and Treatment. 5. utg. New York, NY: Springer, 2012: 192\u20135.","DOI":"10.1007\/978-3-642-15720-2"},{"key":"ref=2","doi-asserted-by":"crossref","unstructured":"Taylor\u00a0MR, Hurley\u00a0JB, Van Epps\u00a0HA et al. A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. Proc Natl Acad Sci U S A 2004; 101: 4584\u20139. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15070761&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1073%2Fpnas.0307074101","DOI":"10.1073\/pnas.0307074101"},{"key":"ref=3","doi-asserted-by":"crossref","unstructured":"Blass\u00a0JP, Avigan\u00a0J, Uhlendorf\u00a0BW. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest 1970; 49: 423\u201332. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=4313434&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1172%2FJCI106251","DOI":"10.1172\/JCI106251"},{"key":"ref=4","doi-asserted-by":"crossref","unstructured":"Sperl\u00a0W, Fleuren\u00a0L, Freisinger\u00a0P et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J Inherit Metab Dis 2015; 38: 391\u2013403. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25526709&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1007%2Fs10545-014-9787-3","DOI":"10.1007\/s10545-014-9787-3"},{"key":"ref=5","doi-asserted-by":"crossref","unstructured":"Patel\u00a0KP, O'Brien\u00a0TW, Subramony\u00a0SH et al. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab 2012; 105: 34\u201343. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22079328&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1016%2Fj.ymgme.2011.09.032","DOI":"10.1016\/j.ymgme.2011.09.032"},{"key":"ref=6","doi-asserted-by":"crossref","unstructured":"DeBrosse\u00a0SD, Okajima\u00a0K, Zhang\u00a0S et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab 2012; 107: 394\u2013402. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23021068&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1016%2Fj.ymgme.2012.09.001","DOI":"10.1016\/j.ymgme.2012.09.001"},{"key":"ref=7","doi-asserted-by":"crossref","unstructured":"Wexler\u00a0ID, Hemalatha\u00a0SG, McConnell\u00a0J et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 1997; 49: 1655\u201361. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9409363&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1212%2FWNL.49.6.1655","DOI":"10.1212\/WNL.49.6.1655"},{"key":"ref=8","unstructured":"De Meirleir\u00a0L. Disorders of pyruvate metabolism. Handb Clin Neurol 2013; 113: 1667\u201373. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23622387&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1016%2FB978-0-444-59565-2.00034-4"},{"key":"ref=9","unstructured":"Lissens\u00a0W, De Meirleir\u00a0L, Seneca\u00a0S et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 2000; 15: 209\u201319. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10679936&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1002%252F%2528SICI%25291098-1004%2528200003%252915%253A3%253C209%253A%253AAID-HUMU1%253E3.0.CO%253B2-K"},{"key":"ref=10","unstructured":"Valle D, Antonarakis S, Ballabio A. The Online Metabolic and Molecular Bases of Inherited Disease. https:\/\/ommbid.mhmedical.com\/content.aspx?bookid=971&sectionid=62633368&jumpsectionID=62633384#1102885218 Lest 19.8.2019."},{"key":"ref=11","unstructured":"Neal E. Dietary Treatment of Epilepsy: Practical Implementation of Ketogenic Therapy. New York, NY: Wiley-Blackwell, 2015."},{"key":"ref=12","doi-asserted-by":"crossref","unstructured":"Owen\u00a0OE, Morgan\u00a0AP, Kemp\u00a0HG et al. Brain metabolism during fasting. J Clin Invest 1967; 46: 1589\u201395. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6061736&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1172%2FJCI105650","DOI":"10.1172\/JCI105650"},{"key":"ref=13","doi-asserted-by":"crossref","unstructured":"Bachmann-Gagescu\u00a0R, Merritt\u00a0JL, Hahn\u00a0SH. A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. J Inherit Metab Dis 2009; 32: 123\u20136. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19639391&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1007%2Fs10545-009-1101-4","DOI":"10.1007\/s10545-009-1101-4"},{"key":"ref=14","doi-asserted-by":"crossref","unstructured":"Sofou\u00a0K, Dahlin\u00a0M, Hallb\u00f6\u00f6k\u00a0T et al. Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes. J Inherit Metab Dis 2017; 40: 237\u201345. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28101805&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1007%2Fs10545-016-0011-5","DOI":"10.1007\/s10545-016-0011-5"},{"key":"ref=15","doi-asserted-by":"crossref","unstructured":"van Dongen\u00a0S, Brown\u00a0RM, Brown\u00a0GK et al. Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment. JIMD Rep 2015; 15: 13\u201327. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24718837&dopt=Abstract","DOI":"10.1007\/8904_2014_293"},{"key":"ref=16","unstructured":"Opinion of the Scientific Committee on Food on the Tolerable Upper Intake Level of Vitamin B1. Geneve: European Commission, Health & Consumer Protection Directorate-General, Scientific Committee on Food, 2001. https:\/\/ec.europa.eu\/food\/sites\/food\/files\/safety\/docs\/sci-com_scf_out93_en.pdf Lest 19.8.2019."},{"key":"ref=17","doi-asserted-by":"crossref","unstructured":"Stacpoole\u00a0PW, Kerr\u00a0DS, Barnes\u00a0C et al. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 2006; 117: 1519\u201331. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16651305&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1542%2Fpeds.2005-1226","DOI":"10.1542\/peds.2005-1226"},{"key":"ref=18","doi-asserted-by":"crossref","unstructured":"Kaufmann\u00a0P, Engelstad\u00a0K, Wei\u00a0Y et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006; 66: 324\u201330. PubMed: http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16476929&dopt=Abstract, Crossref: http:\/\/dx.doi.org\/10.1212%2F01.wnl.0000196641.05913.27","DOI":"10.1212\/01.wnl.0000196641.05913.27"}],"container-title":["Tidsskrift for Den norske legeforening"],"original-title":[],"language":"no","deposited":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T07:26:21Z","timestamp":1781681181000},"score":1,"resource":{"primary":{"URL":"https:\/\/tidsskriftet.no\/2019\/10\/klinisk-oversikt\/pyruvatdehydrogenasemangel"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,14]]},"references-count":18,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2019,10,22]]}},"URL":"https:\/\/doi.org\/10.4045\/tidsskr.18.0988","relation":{},"ISSN":["0029-2001","0807-7096"],"issn-type":[{"value":"0029-2001","type":"print"},{"value":"0807-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,14]]}}}