{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:03:43Z","timestamp":1789131823938,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,5,30]],"date-time":"2006-05-30T00:00:00Z","timestamp":1148947200000},"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":[[2006,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>3\u2010Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3\u2010methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3\u2010methylglutaconate is due to deficient activity of 3\u2010methylglutaconyl\u2010CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3\u2010methylglutaconic acid is not derived from leucine but is of unidentified origin, possibly derived from other metabolic pathways, such as mevalonate metabolism. We report five patients, all presenting a severe early\u2010onset phenotype characterized by 3\u2010methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia\/developmental delay, lactic acidosis, and normal 3\u2010methylglutaconyl\u2010CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3\u2010methylglutaconic aciduria.<\/jats:p>","DOI":"10.1007\/s10545-006-0279-y","type":"journal-article","created":{"date-parts":[[2006,5,30]],"date-time":"2006-05-30T13:37:10Z","timestamp":1148996230000},"page":"546-550","source":"Crossref","is-referenced-by-count":29,"title":["Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3\u2010methylglutaconic aciduria"],"prefix":"10.1002","volume":"29","author":[{"given":"Gabriella Di","family":"Rosa","sequence":"first","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Piazza S. Onofrio 4 Rome I\u201000165 Italy"},{"name":"Department of Medical and Surgical Pediatrics, Division of Infantile Neuropsychiatry University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Deodato","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Piazza S. Onofrio 4 Rome I\u201000165 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ference J.","family":"Loupatty","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Piazza S. Onofrio 4 Rome I\u201000165 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Carrozzo","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Boenzi","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Piazza S. Onofrio 4 Rome I\u201000165 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Tozzi","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Bambino Ges\u00f9 Children's Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Maiorana","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Fatebenefratelli Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital Piazza S. 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