caa a22 4500 467933545 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0279-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0279-y Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria [Elektronische Daten] [Gabriella Rosa, Federica Deodato, Ference Loupatty, Cristiano Rizzo, Rosalba Carrozzo, Filippo Santorelli, Sara Boenzi, Adele D'Amico, Giulia Tozzi, Enrico Bertini, Andrea Maiorana, Ronald Wanders, Carlo Dionisi-Vici] Summary: 3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3-methylglutaconic 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-onset phenotype characterized by 3-methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia/developmental delay, lactic acidosis, and normal 3-methylglutaconyl-CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria. SSIEM and Springer, 2006 Rosa Gabriella Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Deodato Federica Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Loupatty Ference Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Rizzo Cristiano Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Carrozzo Rosalba Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut Santorelli Filippo Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut Boenzi Sara Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut D'Amico Adele Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut Tozzi Giulia Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut Bertini Enrico Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut Maiorana Andrea Neonatal Intensive Care Unit, Fatebenefratelli Hospital, Rome, Italy aut Wanders Ronald Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Dionisi-Vici Carlo Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 546-550 0141-8955 29:4<546 2006 29 10545 https://doi.org/10.1007/s10545-006-0279-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0279-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rosa Gabriella Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- Deodato Federica Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- Loupatty Ference Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Rizzo Cristiano Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- Carrozzo Rosalba Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Santorelli Filippo Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Boenzi Sara Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- D'Amico Adele Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Tozzi Giulia Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Bertini Enrico Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Maiorana Andrea Neonatal Intensive Care Unit, Fatebenefratelli Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Wanders Ronald Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Dionisi-Vici Carlo Division of Metabolism, Bambino Gesù Children's Research Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 546-550 0141-8955 29:4<546 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer