caa a22 4500 467933391 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0315-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0315-y Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease [Elektronische Daten] [E. Simon, R. Fingerhut, J. Baumkötter, V. Konstantopoulou, R. Ratschmann, U. Wendel] Summary: Background: In the rare autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids and their metabolic products results in acute and chronic brain dysfunction. Since 2002, MSUD has been part of the extended newborn screening programme in Germany and Austria. Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD. Aim: The aim of the study was to evaluate the clinical course and alterations of marker metabolites during the first weeks of life in 10 patients with classical MSUD detected by newborn screening (NBS) in comparison with the 10 youngest German patients diagnosed clinically. Method: Laboratory data as well as information on clinical course and management during the neonatal period were obtained retrospectively. Results: Patients detected in NBS presented with lower plasma leucine concentrations at confirmation of diagnosis and less severe clinical symptoms. Lowering of leucine to below a critical threshold of 1000 μmol/L was achieved earlier than in patients diagnosed on clinical grounds. Conclusion: After diagnosis in screening, treatment can be initiated before the occurrence of severe metabolic decompensation. However, a favourable effect can only be achieved with immediate transfer of the neonate to a metabolic centre for adequate treatment in case of a positive screening result. SSIEM and Springer, 2006 Simon E. Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany aut Fingerhut R. Labor Becker, Olgemöller und Kollegen, München, Germany aut Baumkötter J. Children's Hospital, Technical University, München, Germany aut Konstantopoulou V. Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany aut Ratschmann R. University Children's Hospital Wien, Wien, Austria aut Wendel U. Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 532-537 0141-8955 29:4<532 2006 29 10545 https://doi.org/10.1007/s10545-006-0315-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0315-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Simon E. Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Fingerhut R. Labor Becker, Olgemöller und Kollegen, München, Germany aut NATIONALLICENCE 700 1- Baumkötter J. Children's Hospital, Technical University, München, Germany aut NATIONALLICENCE 700 1- Konstantopoulou V. Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany aut NATIONALLICENCE 700 1- Ratschmann R. University Children's Hospital Wien, Wien, Austria aut NATIONALLICENCE 700 1- Wendel U. Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 532-537 0141-8955 29:4<532 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer