Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

Dokumenttyp:: Journal Article; Article
Autor(en):: Nennstiel-Ratzel, U; Arenz, S; Maier, EM; Knerr, I; Baumkötter, J; Röschinger, W; Liebl, B; Hadorn, HB; Roscher, AA; von Kries, R
Titel:: Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.
Abstract:: The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD.
Zeitschriftentitel:: Mol Genet Metab
Jahr:: 2005
Band / Volume:: 85
Heft / Issue:: 2
Seitenangaben Beitrag:: 157-9
Sprache:: eng
Volltext / DOI:: doi:10.1016/j.ymgme.2004.12.010
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/15896661
Print-ISSN:: 1096-7192
TUM Einrichtung:: Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
BibTeX

Vorkommen: