{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:29:34Z","timestamp":1791271774476,"version":"4.1.0"},"reference-count":77,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,9,24]],"date-time":"2012-09-24T00:00:00Z","timestamp":1348444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:p>Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine\u2010dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available. The common metabolic causes of seizures vary according to the age at presentation. Features from the history, examination, imaging, and first line biochemical investigations can all provide clues to an inborn error. This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04406.x","type":"journal-article","created":{"date-parts":[[2012,9,24]],"date-time":"2012-09-24T10:05:08Z","timestamp":1348481108000},"page":"23-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":72,"title":["Inborn errors of metabolism causing epilepsy"],"prefix":"10.1111","volume":"55","author":[{"given":"SHAMIMA","family":"RAHMAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EMMA J","family":"FOOTITT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SOPHIA","family":"VARADKAR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PETER T","family":"CLAYTON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,24]]},"reference":[{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2005.66104.x"},{"key":"e_1_2_14_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)04512-7"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04214.x"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm1366"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0243-2"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq143"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03660.x"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.014"},{"key":"e_1_2_14_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi120"},{"key":"e_1_2_14_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21568"},{"key":"e_1_2_14_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.001"},{"key":"e_1_2_14_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800660"},{"key":"e_1_2_14_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"e_1_2_14_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp336"},{"key":"e_1_2_14_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2011.02.007"},{"key":"e_1_2_14_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.09.005"},{"key":"e_1_2_14_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01833.x"},{"key":"e_1_2_14_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2002.tb00275.x"},{"key":"e_1_2_14_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144270.83080.29"},{"key":"e_1_2_14_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.010"},{"key":"e_1_2_14_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.74.6.542"},{"key":"e_1_2_14_24_2","doi-asserted-by":"publisher","DOI":"10.1086\/517888"},{"key":"e_1_2_14_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2000.tb00369.x"},{"key":"e_1_2_14_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17596-X"},{"key":"e_1_2_14_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9249-5"},{"key":"e_1_2_14_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.06.006"},{"key":"e_1_2_14_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.03.013"},{"key":"e_1_2_14_30_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024091900547"},{"key":"e_1_2_14_31_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9466-1"},{"key":"e_1_2_14_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21390"},{"key":"e_1_2_14_33_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2192"},{"key":"e_1_2_14_34_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-1897"},{"key":"e_1_2_14_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.08.002"},{"key":"e_1_2_14_36_2","doi-asserted-by":"publisher","DOI":"10.2174\/138920012799320455"},{"key":"e_1_2_14_37_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa070613"},{"key":"e_1_2_14_38_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00432.x"},{"key":"e_1_2_14_39_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb01095.x"},{"key":"e_1_2_14_40_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.117575"},{"key":"e_1_2_14_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.018"},{"key":"e_1_2_14_42_2","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"e_1_2_14_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9413-6"},{"key":"e_1_2_14_44_2","doi-asserted-by":"publisher","DOI":"10.1086\/427564"},{"key":"e_1_2_14_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.011"},{"key":"e_1_2_14_46_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl107"},{"key":"e_1_2_14_47_2","doi-asserted-by":"publisher","DOI":"10.1086\/504159"},{"key":"e_1_2_14_48_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052362"},{"key":"e_1_2_14_49_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005500122231"},{"key":"e_1_2_14_50_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9022-9"},{"issue":"2","key":"e_1_2_14_51_2","first-page":"S67","article-title":"Metabolic epilepsies: approaches to a diagnostic challenge","volume":"36","author":"Stockler\u2010Ipsiroglu S","year":"2009","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_14_52_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000234852.43688.bf"},{"key":"e_1_2_14_53_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.037"},{"key":"e_1_2_14_54_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9418-1"},{"key":"e_1_2_14_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.005"},{"key":"e_1_2_14_56_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c679df"},{"key":"e_1_2_14_57_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9196-1"},{"key":"e_1_2_14_58_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.004"},{"key":"e_1_2_14_59_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.007"},{"key":"e_1_2_14_60_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20746"},{"key":"e_1_2_14_61_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.001"},{"key":"e_1_2_14_62_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0800582"},{"key":"e_1_2_14_63_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03541.x"},{"key":"e_1_2_14_64_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-12952"},{"key":"e_1_2_14_65_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.7.1073"},{"key":"e_1_2_14_66_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2010.00394.x"},{"key":"e_1_2_14_67_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M010860200"},{"key":"e_1_2_14_68_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.82.3.236"},{"key":"e_1_2_14_69_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.01.003"},{"key":"e_1_2_14_70_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000287141.90944.95"},{"key":"e_1_2_14_71_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01877.x"},{"key":"e_1_2_14_72_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm242"},{"key":"e_1_2_14_73_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.022"},{"key":"e_1_2_14_74_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.024"},{"key":"e_1_2_14_75_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2379"},{"key":"e_1_2_14_76_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02117.x"},{"key":"e_1_2_14_77_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70194-1"},{"key":"e_1_2_14_78_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.129478"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04406.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04406.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:31:51Z","timestamp":1697650311000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04406.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,24]]},"references-count":77,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04406.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04406.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,24]]},"assertion":[{"value":"2012-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}