caa a22 4500 467933138 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0284-1 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0284-1 Neonatal screening for glutaric aciduria type I: Strategies to proceed [Elektronische Daten] [M. Lindner, S. Ho, J. Fang-Hoffmann, G. Hoffmann, S. Kölker] Summary: Acute encephalopathic crisis in glutaric aciduria type I results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and reduced life expectancy. A conditio sine qua non for the prevention of irreversible brain damage is timely diagnosis and start of therapy, i.e. before the onset of neurological disease. As there are no specific clinical signs or symptoms that allow a reliable detection of these patients before the manifestation of encephalopathic crises, neonatal screening programmes for glutaric aciduria type I have been established in some countries using analysis of glutarylcarnitine in dried blood spots by tandem mass spectrometry. This article summarizes recent strategies, pitfalls and shortcomings of mass screening for glutaric aciduria type I, focusing on the relevant risk of missing patients with a mild biochemical phenotype (i.e. low excretors). Furthermore, it evaluates a binary strategy - using glutarylcarnitine as primary variable and glutarylcarnitine/acylcarnitine ratios as secondary variable - to improve the diagnostic sensitivity and specificity of neonatal screening for glutaric aciduria type I. An optimization of diagnostic as well as therapeutic procedures must be achieved before screening for glutaric aciduria type I can be regarded as reliable and beneficial for all patients. SSIEM and Springer, 2006 Lindner M. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut Ho S. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut Fang-Hoffmann J. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut Hoffmann G. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut Kölker S. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 378-382 0141-8955 29:2-3<378 2006 29 10545 https://doi.org/10.1007/s10545-006-0284-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0284-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lindner M. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut NATIONALLICENCE 700 1- Ho S. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut NATIONALLICENCE 700 1- Fang-Hoffmann J. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut NATIONALLICENCE 700 1- Hoffmann G. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut NATIONALLICENCE 700 1- Kölker S. Department of General Pediatrics, Division of Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 153, D-69120, Heidelberg, Germany aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 378-382 0141-8955 29:2-3<378 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer