{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T22:35:40Z","timestamp":1792535740675,"version":"4.5.0"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T00:00:00Z","timestamp":1673913600000},"content-version":"vor","delay-in-days":838,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Nutrition"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1093\/jn\/nxaa112","type":"journal-article","created":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T15:10:43Z","timestamp":1585753843000},"page":"2556S-2560S","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"special_numbering":"S1","title":["Inherited Disorders of Lysine Metabolism: A Review"],"prefix":"10.1016","volume":"150","author":[{"given":"Juliette","family":"Bouchereau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1093\/jn\/nxaa112_bib1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.bbadis.2016.09.006","article-title":"Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway: implications for pyridoxine dependent epilepsy (PDE).","volume":"1863","author":"Pena","year":"2017","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"issue":"4","key":"10.1093\/jn\/nxaa112_bib2","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1002\/jimd.12076","article-title":"New insights into human lysine degradation pathways with relevance to pyridoxinedependent epilepsy due to antiquitin deficiency.","volume":"42","author":"Crowther","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"10.1093\/jn\/nxaa112_bib3","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.25233","article-title":"Newborn screening: a disease-changing intervention for glutaric aciduria type 1.","volume":"83","author":"Boy","year":"2018","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1093\/jn\/nxaa112_bib4","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/ajmg.c.20007","article-title":"Type I glutaric aciduria, Part 1: natural history of 77 patients.","volume":"121C","author":"Strauss","year":"2003","journal-title":"Am JMed Genet C Semin Med Genet"},{"issue":"1","key":"10.1093\/jn\/nxaa112_bib5","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/ana.10784","article-title":"Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.","volume":"55","author":"K\u00f6lker","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1093\/jn\/nxaa112_bib6","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-016-9999-9","article-title":"Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.","volume":"40","author":"Boy","year":"2017","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1093\/jn\/nxaa112_bib7","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/jimd.12033","article-title":"Patterns, evolution, and severity of striatal injury in insidious- vs. acute-onset glutaric aciduria type 1.","volume":"42","author":"Boy","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1093\/jn\/nxaa112_bib8","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/ajmg.c.20008","article-title":"Type I glutaric aciduria, Part 2: a model of acute striatal necrosis.","volume":"121C","author":"Strauss","year":"2003","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1093\/jn\/nxaa112_bib9","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s00247-015-3395-8","article-title":"Glutaric aciduria type 1: neuroimaging features with clinical correlation.","volume":"45","author":"Mohammad","year":"2015","journal-title":"Pediatr Radiol"},{"issue":"8","key":"10.1093\/jn\/nxaa112_bib10","doi-asserted-by":"crossref","first-page":"e54","DOI":"10.1093\/brain\/awl137","article-title":"Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?","volume":"129","author":"K\u00f6lker","year":"2006","journal-title":"Brain J Neurol"},{"issue":"3","key":"10.1093\/jn\/nxaa112_bib11","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1111\/j.1471-4159.2006.03813.x","article-title":"Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood\u2013brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.","volume":"97","author":"Sauer","year":"2006","journal-title":"J Neurochem"},{"issue":"3","key":"10.1093\/jn\/nxaa112_bib12","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nm1366","article-title":"Mutations in antiquitin in individuals with pyridoxine-dependent seizures.","volume":"12","author":"Mills","year":"2006","journal-title":"Nat Med"},{"issue":"4","key":"10.1093\/jn\/nxaa112_bib13","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/jimd.12060","article-title":"Disorders affecting vitamin B6 metabolism.","volume":"42","author":"Wilson","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1093\/jn\/nxaa112_bib14","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/jcb.22381","article-title":"Is antiquitin a mitochondrial enzyme?","volume":"109","author":"Wong","year":"2010","journal-title":"J Cell Biochem"},{"key":"10.1093\/jn\/nxaa112_bib15","first-page":"151","article-title":"Purification and properties of a-aminoadipate aminotransferase from rat liver and kidney mitochondria.","volume":"21","author":"Mawal","year":"1991","journal-title":"Prep Biochem"},{"issue":"7","key":"10.1093\/jn\/nxaa112_bib16","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1093\/brain\/awq143","article-title":"Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).","volume":"133","author":"Mills","year":"2010","journal-title":"Brain J Neurol"},{"key":"10.1093\/jn\/nxaa112_bib17","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.pediatrneurol.2015.12.013","article-title":"Pyridoxine-dependent epilepsy: an expanding clinical spectrum.","volume":"59","author":"van Karnebeek","year":"2016","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1093\/jn\/nxaa112_bib18","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/jimd.12045","article-title":"The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy.","volume":"42","author":"Coughlin","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"10.1093\/jn\/nxaa112_bib19","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.ymgme.2012.09.006","article-title":"Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.","volume":"107","author":"van Karnebeek","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"6","key":"10.1093\/jn\/nxaa112_bib20","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.ejpn.2014.07.001","article-title":"Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet.","volume":"18","author":"Mercimek-Mahmutoglu","year":"2014","journal-title":"Eur J Paediatr Neurol"},{"issue":"1-2","key":"10.1093\/jn\/nxaa112_bib21","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ymgme.2015.05.011","article-title":"Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome.","volume":"116","author":"Coughlin","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1093\/jn\/nxaa112_bib22","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s11011-016-9933-8","article-title":"Phenotype, biochemical features, genotype and treatment outcome of pyridoxine dependent epilepsy.","volume":"32","author":"Al Teneiji","year":"2017","journal-title":"Metab Brain Dis"},{"issue":"2","key":"10.1093\/jn\/nxaa112_bib23","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1083\/jcb.201901033","article-title":"Saccharopine, a lysine degradation intermediate, is a mitochondrial toxin.","volume":"218","author":"Leandro","year":"2019","journal-title":"J Cell Biol"},{"key":"10.1093\/jn\/nxaa112_bib24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/1750-1172-8-57","article-title":"Genetic basis of hyperlysinemia.","volume":"8","author":"Houten","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"18","key":"10.1093\/jn\/nxaa112_bib25","doi-asserted-by":"crossref","first-page":"5009","DOI":"10.1093\/hmg\/ddu218","article-title":"Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.","volume":"23","author":"Houten","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1093\/jn\/nxaa112_bib26","doi-asserted-by":"crossref","first-page":"e20154534","DOI":"10.1542\/peds.2015-4534","article-title":"Lysine restriction and pyridoxal phosphate administration in a NADK2 patient.","volume":"138","author":"Tort","year":"2016","journal-title":"Pediatrics"},{"issue":"3","key":"10.1093\/jn\/nxaa112_bib27","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1002\/ajmg.a.38602","article-title":"Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.","volume":"176","author":"Pomerantz","year":"2018","journal-title":"Am J Med Genet A"}],"container-title":["The Journal of Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022316622024245?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022316622024245?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/academic.oup.com\/jn\/article-pdf\/150\/Supplement_1\/2556S\/33805800\/nxaa112.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jn\/article-pdf\/150\/Supplement_1\/2556S\/33805800\/nxaa112.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T03:25:22Z","timestamp":1722655522000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022316622024245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":27,"alternative-id":["S0022316622024245"],"URL":"https:\/\/doi.org\/10.1093\/jn\/nxaa112","relation":{},"ISSN":["0022-3166"],"issn-type":[{"value":"0022-3166","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Inherited Disorders of Lysine Metabolism: A Review","name":"articletitle","label":"Article Title"},{"value":"The Journal of Nutrition","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1093\/jn\/nxaa112","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2020 American Society for Nutrition. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}