{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:16:19Z","timestamp":1787001379727,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1997,8,1]],"date-time":"1997-08-01T00:00:00Z","timestamp":870393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1997,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report molecular analysis of thiamin\u2010responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X\u2010linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentration (0.4 mmol\/L). However, in the presence of a low concentration (1 X 10\u20104 mmol\/L) of TPP, the activity was significantly decreased, indicating that PDHC deficiency in this patient was due to decreased affinity of PDHC for TPP. The patient's older brother also was diagnosed as PDHC deficiency with Leigh syndrome, suggesting that PDHC deficiency in these two brothers was not a de novo mutation. Sequencing of the X\u2010linked PDHC E1 \u03b1 subunit revealed a C \u2192 G point mutation at nucleotide 787, resulting in a substitution of glycine for arginine 263. Restriction enzyme analysis of the E1\u03b1 gene revealed that the mother was a heterozygote, indicating that thiamin\u2010responsive PDHC deficiency associated with Leigh syndrome due to this mutation is transmitted by X\u2010linked inheritance.<\/jats:p>","DOI":"10.1023\/a:1005305614374","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T16:48:34Z","timestamp":1040489314000},"page":"539-548","source":"Crossref","is-referenced-by-count":34,"title":["Biochemical and molecular analysis of an X\u2010linked case of Leigh syndrome associated with thiamin\u2010responsive pyruvate dehydrogenase deficiency"],"prefix":"10.1002","volume":"20","author":[{"given":"E.","family":"Naito","sequence":"first","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of Tokushima  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of Tokushima  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of Tokushima  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Saijo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of Tokushima  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of Tokushima  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Osaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Yokohoma City University School of Medicine  Yokohama 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