{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T19:04:21Z","timestamp":1783019061887,"version":"3.54.6"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Although mitochondrial respiratory chain disorders (<jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content>) are one of the most common congenital metabolic diseases, there is no cumulative data on enzymatic diagnosis and clinical manifestation for <jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan and <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>sia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated 675 Japanese patients having profound lactic acidemia, or patients having symptoms or signs of multiple\u2010organ origin simultaneously without lactic acidemia on respiratory chain enzyme activity assay and blue native polyacrylamide gel electrophoresis. Quantitative polymerase chain reaction was used to diagnose mitochondrial <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> depletion syndrome (<jats:styled-content style=\"fixed-case\">MTDPS<\/jats:styled-content>). Mutation analysis of several genes responsible for <jats:styled-content style=\"fixed-case\">MTDPS<\/jats:styled-content> was also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 232 patients were diagnosed with a probable or definite <jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content> are common, afflicting one in every several thousand people in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan. More than one in 10 of the patients diagnosed lacked lactic acidemia. A subsequent analysis of the causative genes of <jats:styled-content style=\"fixed-case\">MTDPS<\/jats:styled-content> identified novel mutations in six of the patients. A 335\u2009bp deletion in deoxyguanosine kinase (<jats:italic><jats:styled-content style=\"fixed-case\">DGUOK<\/jats:styled-content><\/jats:italic>; g.11692_12026del335 (p.<jats:styled-content style=\"fixed-case\">A48fsX<\/jats:styled-content>90)) was noted in two unrelated families, and may therefore be a common mutation in Japanese people. The proportion of all patients with <jats:styled-content style=\"fixed-case\">MTDPS<\/jats:styled-content>, and particularly those with recessive <jats:italic>DNA polymerase \u03b3<\/jats:italic> (<jats:styled-content style=\"fixed-case\"><jats:italic>POLG<\/jats:italic>)<\/jats:styled-content> mutations, appears to be lower in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan than in other studies. This is most likely due to the relatively high prevalence of ancient <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>uropean <jats:italic><jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content><\/jats:italic> mutations in <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>aucasian populations. No other significant differences were identified in a comparison of the enzymatic diagnoses, disease classifications or prognoses in Japanese and <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>aucasian patients with <jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">MTDPS<\/jats:styled-content> and other <jats:styled-content style=\"fixed-case\">MRCD<\/jats:styled-content> are common, but serious, diseases that occur across all races.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12249","type":"journal-article","created":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T11:32:41Z","timestamp":1385379161000},"page":"180-187","source":"Crossref","is-referenced-by-count":19,"title":["Molecular diagnosis of mitochondrial respiratory chain disorders in <scp>J<\/scp>apan: Focusing on mitochondrial <scp>DNA<\/scp> depletion syndrome"],"prefix":"10.1111","volume":"56","author":[{"given":"Taro","family":"Yamazaki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Saitama Medical University  Saitama Japan"},{"name":"Murdoch Childrens Research Institute Royal Children's Hospital and Department of Paediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison G","family":"Compton","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute Royal Children's Hospital and Department of Paediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canny","family":"Sugiana","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute Royal Children's Hospital and Department of Paediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Harashima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Saitama Medical University  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Amemiya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Saitama Medical University  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Ajima","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Tsuruoka","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Fujinami","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Kawachi","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Kurashige","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kochi Medical School Kochi University  Kochi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenshi","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kochi Medical School Kochi University  Kochi 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