Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Kölker, S. et al.

Stefan Kölker, Sven F. Garbade, Nikolas Boy, Esther M. Maier, Thomas Meissner, Chris Mühlhausen, Julia B. Hennermann, Thomas Lücke, Johannes Häberle, Jochen Baumkötter, Wolfram Haller, Edith Muller, Johannes Zschocke, Peter Burgard, Georg F. Hoffmann,

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare neurometabolic disorder that is considered treatable if patients are identified before the onset of acute encephalopathic crises. To allow early identification of affected individuals, tandem mass spectrometry-based newborn screening for GCDH deficiency has been started in Germany in 1999. We prospectively followed neonatally screened patients (n=38) and compared the neurologic outcome with patients from a historical cohort (n=62). In the majority of neonatally screened children, the onset of encephalopathic crises has been prevented (89%), whereas acute encephalopathic crises or progressive neurologic impairment was common in the historical cohort. Neonatal screening in combination with intensive management is effective--even assuming ascertainment bias in the historical cohort. Similar proportions of commonest mutations and biochemical phenotypes (high and low excretors) were found in neonatally screened and historical patients. However, potential predictor variables for mild clinical phenotypes are not yet known and thus a selection of these patients by newborn screening is not excluded. No patient was known to be missed by newborn screening from 1999 to 2005. In conclusion, this study confirms that newborn screening for GCDH deficiency in combination with intensive management is beneficial.[1]

References

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Kölker, S., Garbade, S.F., Boy, N., Maier, E.M., Meissner, T., Mühlhausen, C., Hennermann, J.B., Lücke, T., Häberle, J., Baumkötter, J., Haller, W., Muller, E., Zschocke, J., Burgard, P., Hoffmann, G.F. Pediatr. Res. (2007) [Pubmed]

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