{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:03:44Z","timestamp":1789131824734,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T00:00:00Z","timestamp":1573776000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3\u2010methylglutaconic acid (3\u2010MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy. Here, we report the delayed appearance of 3\u2010MGA\u2010uria, between 6 and 18\u2009months in three patients (out of 100 childhood onset cardiomyopathy) with neonatal onset cardiomyopathy, secondary to <jats:italic>TMEM70<\/jats:italic> mutations and <jats:italic>TAZ<\/jats:italic> mutations (Barth syndrome), in whom extensive metabolic investigations, performed in the first weeks of life, did not display 3\u2010MGA\u2010uria. Serial retrospective evaluations showed full characteristic features of <jats:italic>TMEM70<\/jats:italic> and <jats:italic>TAZ<\/jats:italic> mutations (Barth syndrome) in these three patients, including a clearly abnormal monolysocardiolipin\/cardiolipin ratio in the two Barth syndrome patients. Serially repeated metabolic investigations finally discovered the 3\u2010MGA\u2010uria biomarker in all three patients between the age of 6 and 18\u2009months. Our observation provides novel insights into the temporal appearance of 3\u2010MGA\u2010uria in <jats:italic>TMEM70<\/jats:italic> and <jats:italic>TAZ<\/jats:italic> mutations (Barth syndrome) and focus the importance of multidisciplinary management and careful evaluation of family history and red flag signs for phenocopies in infantile onset cardiomyopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.61383","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T09:28:21Z","timestamp":1573810101000},"page":"64-70","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Delayed appearance of 3\u2010methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9428-4934","authenticated-orcid":false,"given":"Anwar","family":"Baban","sequence":"first","affiliation":[{"name":"Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachele","family":"Adorisio","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette","family":"Corica","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Cal\u00ec","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Semeraro","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit Bambino Ges\u00f9 Children Hospital and Research Institute  Rome 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Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Scientific Directorate Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric M.","family":"Vaz","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Disease Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Drago","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit Bambino Ges\u00f9 Children Hospital and Research Institute  Rome 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