{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:09:04Z","timestamp":1792660144318,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,1,8]],"date-time":"2013-01-08T00:00:00Z","timestamp":1357603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Increased urinary 3\u2010methylglutaconic acid excretion is a relatively common finding in metabolic disorders, especially in mitochondrial disorders. In most cases 3\u2010methylglutaconic acid is only slightly elevated and accompanied by other (disease specific) metabolites. There is, however, a group of disorders with significantly and consistently increased 3\u2010methylglutaconic acid excretion, where the 3\u2010methylglutaconic aciduria is a hallmark of the phenotype and the key to diagnosis. Until now these disorders were labelled by roman numbers (I\u2013V) in the order of discovery regardless of pathomechanism. Especially, the so called \u201cunspecified\u201d 3\u2010methylglutaconic aciduria type IV has been ever growing, leading to biochemical and clinical diagnostic confusion. Therefore, we propose the following pathomechanism based classification and a simplified diagnostic flow chart for these \u201cinborn errors of metabolism with 3\u2010methylglutaconic aciduria as discriminative feature\u201d. One should distinguish between \u201cprimary 3\u2010methylglutaconic aciduria\u201d formerly known as type I (3\u2010methylglutaconyl\u2010CoA hydratase deficiency, AUH defect) due to defective leucine catabolism and the\u2014currently known\u2014three groups of \u201csecondary 3\u2010methylglutaconic aciduria\u201d. The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect). The remaining patients with significant and consistent 3\u2010methylglutaconic aciduria in whom the above mentioned syndromes have been excluded, should be referred to as \u201cnot otherwise specified (NOS) 3\u2010MGA\u2010uria\u201d until elucidation of the underlying pathomechanism enables proper (possibly extended) classification.<\/jats:p>","DOI":"10.1007\/s10545-012-9580-0","type":"journal-article","created":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T14:25:04Z","timestamp":1357568704000},"page":"923-928","source":"Crossref","is-referenced-by-count":94,"title":["Inborn errors of metabolism with 3\u2010methylglutaconic aciduria as discriminative feature: proper classification and nomenclature"],"prefix":"10.1002","volume":"36","author":[{"given":"Saskia B.","family":"Wortmann","sequence":"first","affiliation":[{"name":"Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics Institute of Genetic and Metabolic Disease Nijmegen The Netherlands"},{"name":"Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD) Radboud University Medical Centre P.O Box 9101 Nijmegen 6500 HB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinus","family":"Duran","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G.","family":"Barth","sequence":"additional","affiliation":[{"name":"Emeritus Professor of Pediatric Neurology, Emma Children's Hospital\/Academic Medical Centre University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Sperl","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics Institute of Genetic and Metabolic Disease Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/324651"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-385"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.246"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.4.595"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036657"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80698-7"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1018"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2009.168096"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/344712"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.005"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.043745"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.08.008"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.01.013"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9210-7"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f39a8a"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2325"},{"key":"e_1_2_7_19_1","unstructured":"WortmannSBKluijtmansLARodenburgRJSassJONouwsJvanKaauwenEPKleefstraTTranebjaergLdeVriesMCIsohanniPWalterKAlkurayaFSSmutsIReineckeCJvan 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