{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:15:52Z","timestamp":1787026552308,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T00:00:00Z","timestamp":1466726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T00:00:00Z","timestamp":1466726400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Universit\u00e4t Z\u00fcrich (CH), Radiz Rare Disease Initiative Zurich"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B<jats:sub>6<\/jats:sub>\u2010dependent epilepsy. As these defects interfere with vitamin B<jats:sub>6<\/jats:sub> metabolism by different mechanisms, the plasma vitamin B<jats:sub>6<\/jats:sub> profile can give important clues for further molecular work\u2010up. This has so far been investigated in only a small number of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated the vitamin B<jats:sub>6<\/jats:sub> vitamers pyridoxal 5\u2019\u2010phosphate (PLP), pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN) and the catabolite pyridoxic acid (PA) in the so far largest patient cohort: reference (<jats:italic>n<\/jats:italic>\u2009=\u200950); pyridox(am)ine 5\u2019\u2010phosphate oxidase (PNPO) deficiency (<jats:italic>n<\/jats:italic>\u2009=\u20096); antiquitin (ATQ) deficiency (<jats:italic>n<\/jats:italic>\u2009=\u200921); tissue non\u2010specific alkaline phosphatase (TNSALP) deficiency (<jats:italic>n<\/jats:italic>\u2009=\u20092) and epileptic encephalopathy (EE) of unknown etiology tested negative for ATQ and PNPO deficiency (<jats:italic>n<\/jats:italic>\u2009=\u200964).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>High plasma PM concentration was found in all patients with PNPO deficiency irrespective of vitamin B<jats:sub>6<\/jats:sub> supplementation. Their PM concentration and the PM\/PA ratio was significantly higher (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001), compared to any other patients analysed. One patient with TNSALP deficiency and sampling prior to PN supplementation had markedly elevated plasma PLP concentration. On PN supplementation, patients with TNSALP deficiency, ATQ deficiency and patients of the EE cohort had similar plasma vitamin B<jats:sub>6<\/jats:sub> profiles that merely reflect the intake of supra\u2010physiological doses of vitamin B<jats:sub>6<\/jats:sub>. The interval of sampling to the last PN intake strongly affected the plasma concentrations of PN, PL and PA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>PM concentrations and the PM\/PA ratio clearly separated PNPO\u2010deficient patients from the other cohorts. The plasma PM\/PA ratio thus represents a robust biomarker for the selective screening of PNPO deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-016-9955-8","type":"journal-article","created":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T06:23:25Z","timestamp":1466749405000},"page":"733-741","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The value of plasma vitamin B<sub>6<\/sub> profiles in early onset epileptic encephalopathies"],"prefix":"10.1002","volume":"39","author":[{"given":"D\u00e9borah","family":"Mathis","sequence":"first","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Abela","sequence":"additional","affiliation":[{"name":"Division of Child Neurology University Children's Hospital Zurich Steinwiesstrasse 75 Zurich 8032 Switzerland"},{"name":"Children's Research Centre University Children's Hospital Zurich Zurich Switzerland"},{"name":"Radiz \u2013 Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Albersen","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center (UMC) Utrecht Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"B\u00fcrer","sequence":"additional","affiliation":[{"name":"Division of Metabolism University Children's Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Crowther","sequence":"additional","affiliation":[{"name":"Division of Child Neurology University Children's Hospital Zurich Steinwiesstrasse 75 Zurich 8032 Switzerland"},{"name":"Children's Research Centre University Children's Hospital Zurich Zurich Switzerland"},{"name":"Radiz \u2013 Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Beese","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Levinus A.","family":"Bok","sequence":"additional","affiliation":[{"name":"Department of Pediatrics MMC Veldhoven Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Struys","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry VU University Medical Center Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorina M.","family":"Papuc","sequence":"additional","affiliation":[{"name":"Children's Research Centre University Children's Hospital Zurich Zurich Switzerland"},{"name":"Radiz \u2013 Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland"},{"name":"Institute of Medical Genetics University of Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[{"name":"Children's Research Centre University Children's Hospital Zurich Zurich Switzerland"},{"name":"Radiz \u2013 Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland"},{"name":"Institute of Medical Genetics University of Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hersberger","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanda M.","family":"Verhoeven\u2010Duif","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center (UMC) Utrecht Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Plecko","sequence":"additional","affiliation":[{"name":"Division of Child Neurology University Children's Hospital Zurich Steinwiesstrasse 75 Zurich 8032 Switzerland"},{"name":"Children's Research Centre University Children's Hospital Zurich Zurich Switzerland"},{"name":"Radiz \u2013 Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054113"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0120972"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.6.1005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","unstructured":"BagciS ZschockeJ HoffmannGF et al (2009)Pyridoxal phosphate\u2010dependent neonatal epileptic encephalopathy.BMJ Case Rep2009","DOI":"10.1136\/bcr.11.2008.1247"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1373\/49.1.155"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-33673"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2015.0754"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13312-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.2741\/E428"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9279-7"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9493-y"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.11.006"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.008"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_413"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015121414782"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/86.1.131"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi120"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu051"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.01.004"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000344"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1353489"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnu.2005.06.004"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.10.003"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3177\/jnsv.33.11"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/45.6.1472"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2011.11.018"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(00)00150-9"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0379"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12346"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112031"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-016-9955-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-016-9955-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-016-9955-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:22:43Z","timestamp":1694751763000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-016-9955-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,24]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1007\/s10545-016-9955-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-016-9955-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,24]]}}}