caa a22 4500 467933693 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0388-7 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0388-7 Barth syndrome presenting with acute metabolic decompensation in the neonatal period [Elektronische Daten] [Maria Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi] Summary: We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2. SSIEM and Springer, 2006 Donati Maria Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Malvagia Sabrina Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Pasquini Elisabetta Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Morrone Amelia Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Marca Giancarlo Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Garavaglia Barbara Molecular Neurogenetics, National Neurological Institute ‘Carlo Besta', Milan, Italy aut Toniolo Daniela Dibit-San Raffaele Scientific Institute, Milan, Italy aut Zammarchi Enrico Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 684-684 0141-8955 29:5<684 2006 29 10545 https://doi.org/10.1007/s10545-006-0388-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0388-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Donati Maria Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 700 1- Malvagia Sabrina Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 700 1- Pasquini Elisabetta Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 700 1- Morrone Amelia Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 700 1- Marca Giancarlo Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 700 1- Garavaglia Barbara Molecular Neurogenetics, National Neurological Institute ‘Carlo Besta', Milan, Italy aut NATIONALLICENCE 700 1- Toniolo Daniela Dibit-San Raffaele Scientific Institute, Milan, Italy aut NATIONALLICENCE 700 1- Zammarchi Enrico Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 684-684 0141-8955 29:5<684 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer