caa a22 4500 467933200 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0278-z doi (NATIONALLICENCE)springer-10.1007/s10545-006-0278-z ‘Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry [Elektronische Daten] [Carlo Dionisi-Vici, Federica Deodato, Wulf Röschinger, William Rhead, Bridget Wilcken] Summary: ‘Classical organic acidurias' comprise isovaleric aciduria, propionic aciduria and methylmalonic aciduria. Available data from the literature suggest that the use of ‘new' therapeutic strategies has improved survival but has not modified neurodevelopment. Progressive neurocognitive deterioration is almost invariably present in propionic and methylmalonic acidurias, while large-scale studies on the long-term outcome of patients with isovaleric aciduria are still lacking. In order to answer to some of the questions suggested by Wilson and Jungner in 1968 about the criteria of disease screening, we compared the natural history of patients with ‘classical' organic acidurias diagnosed on clinical bases to those diagnosed through neonatal mass screening using tandem mass spectrometry. Decreased early mortality, less severe symptoms at diagnosis, and more favourable short-term neurodevelopmental outcome were recorded in patients identified through expanded newborn screening. The short duration of follow-up so far does not allow us to draw final conclusions about the effects of newborn screening on long-term outcome. The evaluation of the effect of neonatal screening on the detection rate of these three diseases showed that the incidence of isovaleric aciduria was significantly higher in the screening population than in clinically detected cases, with no changes for propionic and methylmalonic acidurias. Further multicentre longitudinal studies are needed to assess the usefulness of expanded newborn screening for ‘classical' organic acidurias and to better understand the clinical spectrum of these diseases. This paper describes the long-term outcome and the impact of expanded newborn screening on the so-called ‘classical' organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria). SSIEM and Springer, 2006 Dionisi-Vici Carlo Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Deodato Federica Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut Röschinger Wulf Department of Metabolic Diseases, Ludwig-Maximilians University, München, Germany aut Rhead William Genetic Center, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA aut Wilcken Bridget The Children's Hospital at Westmead, Westmead, Australia aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 383-389 0141-8955 29:2-3<383 2006 29 10545 https://doi.org/10.1007/s10545-006-0278-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0278-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dionisi-Vici Carlo Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- Deodato Federica Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy aut NATIONALLICENCE 700 1- Röschinger Wulf Department of Metabolic Diseases, Ludwig-Maximilians University, München, Germany aut NATIONALLICENCE 700 1- Rhead William Genetic Center, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA aut NATIONALLICENCE 700 1- Wilcken Bridget The Children's Hospital at Westmead, Westmead, Australia aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 383-389 0141-8955 29:2-3<383 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer