{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:26:24Z","timestamp":1791563184938,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost\u2010effective clinical diagnostic method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 4\u2010year\u2010old boy was preliminarily diagnosed with putative Leigh syndrome based on the clinical presentation. PDHC activity in peripheral blood leukocytes and a corresponding gene analysis were subsequently undertaken. Sodium pyruvate 1\u2010<jats:sup>13<\/jats:sup>C was used for the analysis of PDHC activity in peripheral leukocytes. The genes encoding PDHC were then scanned for mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results showed that the corresponding PDHC activity was dramatically decreased to 10.5\u00a0nmol\/h\/mg protein as compared with that of healthy controls (124.6\u00a0\u00b1\u00a07.1\u00a0nmol\/h\/mg). The ratio of PDHC to citrate synthase was 2.1% (control: 425.3\u00a0\u00b1\u00a027.1). The mutation analysis led to the identification of a missense mutation, NM_000284.4:g214C&gt;T, in exon 3 of <jats:italic>PDHC<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The peripheral blood leukocyte PDHC activity assay may provide a practical enzymatic diagnostic method for <jats:italic>PDHC<\/jats:italic>\u2010related mitochondrial diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1728","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T10:44:17Z","timestamp":1624358657000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes"],"prefix":"10.1002","volume":"9","author":[{"given":"YanYan","family":"Ma","sequence":"first","affiliation":[{"name":"Central Laboratory of Qinghai University Affiliated Hospital Xining China"},{"name":"ChinovoLaboratory Beijing P. 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5432-7901","authenticated-orcid":false,"given":"YaoGang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Central Laboratory of Qinghai University Affiliated Hospital Xining China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Neurological Department of Qinghai University Affiliated Hospital Xining China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhu","family":"Man","sequence":"additional","affiliation":[{"name":"Neurological Department of Qinghai University Affiliated Hospital Xining China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XiaoMing","family":"Su","sequence":"additional","affiliation":[{"name":"Neurological Department of Qinghai University Affiliated Hospital Xining China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ShuJing","family":"Hao","sequence":"additional","affiliation":[{"name":"ChinovoLaboratory Beijing P. R. China"},{"name":"Clinical Laboratory of Zhongke Beijing P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TianZe","family":"Wang","sequence":"additional","affiliation":[{"name":"ChinovoLaboratory Beijing P. R. China"},{"name":"Clinical Laboratory of Zhongke Beijing P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4809"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2015.07.002"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199303000-00016"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200012000-00008"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687218"},{"issue":"3","key":"e_1_2_10_7_1","first-page":"558","article-title":"Mutations in the X\u2010linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex","volume":"56","author":"Chun K.","year":"1995","journal-title":"American Journal of Human Genetics"},{"issue":"2","key":"e_1_2_10_8_1","first-page":"159","article-title":"The Effect of Hemiscorpius lepturus (Scorpionida: Hemiscorpiidae) Venom on Leukocytes and the Leukocyte Subgroups in Peripheral Blood of Rat","volume":"10","author":"Ghafourian M.","year":"2016","journal-title":"Journal of Arthropod\u2010Borne Diseases"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304601"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811399905"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2017.121"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.032"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R114.563148"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01313.x"},{"issue":"21","key":"e_1_2_10_16_1","first-page":"1539","article-title":"A case of congenital lactic acidosis caused by deficiency of pyruvate dehydrogenase","volume":"31","author":"Salti R.","year":"1979","journal-title":"Minerva Pediatrica"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1341601"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1570-2"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1728","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1728","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1728","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:46:36Z","timestamp":1693331196000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,22]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/mgg3.1728"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1728","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,22]]},"assertion":[{"value":"2019-10-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1728"}}