{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T16:17:34Z","timestamp":1783959454241,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T00:00:00Z","timestamp":1776643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T00:00:00Z","timestamp":1776643200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pyridox(am)ine\u20105\u2032\u2010phosphate oxidase (PNPO) deficiency is characterized by early\u2010onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the\n                    <jats:italic>PNPO<\/jats:italic>\n                    gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine\u20105\u2032\u2010phosphate and pyridoxamine\u20105\u2032\u2010phosphate (two vitamers of vitamin B6) into the active cofactor, pyridoxal\u20105\u2032\u2010phosphate (PLP). Treatment relies on PLP or pyridoxine in some cases. Long\u2010term outcomes remain suboptimal. We describe two cases of unrelated children treated with vitamin B6 (pyridoxine) in utero: one with a confirmed prenatal PNPO diagnosis and one at risk due to family history but ultimately unaffected. In utero pyridoxine, combined with early postnatal PLP treatment, allowed excellent seizure control and normal neurodevelopment in the long term. Notably, our first patient, treated from birth, is now 10\u2009years old, representing the oldest reported PNPO\u2010deficient individual treated from birth. Case 2 highlights the safety of prenatal B6 supplementation even in unaffected fetuses. These observations support prenatal pyridoxine supplementation as a safe and potentially beneficial strategy in at\u2010risk PNPO pregnancies.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70086","type":"journal-article","created":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:14:35Z","timestamp":1776730475000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Should\n                    <scp>PNPO<\/scp>\n                    Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4619-8556","authenticated-orcid":false,"given":"Chlo\u00e9","family":"de Puyraimond","sequence":"first","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Girard","sequence":"additional","affiliation":[{"name":"Hepatology Department, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9  Paris 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MetaboHUB Universit\u00e9 Paris\u2010Saclay, CEA  Gif\u2010sur\u2010Yvette France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"Baurand","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, Centre de g\u00e9n\u00e9tique  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Benoist","sequence":"additional","affiliation":[{"name":"Metabolic Biochemistry, H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"},{"name":"D\u00e9partement M\u00e9dicaments et Technologies pour la Sant\u00e9, MetaboHUB Universit\u00e9 Paris\u2010Saclay, CEA  Gif\u2010sur\u2010Yvette France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippa B.","family":"Mills","sequence":"additional","affiliation":[{"name":"Inborn Errors of Metabolism, Genetics and Genomic Medicine UCL Great Ormond Street Institute of Child Health 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