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.
Mol Genet Metab
; 85(2): 157-9, 2005 Jun.
Article
en En
| MEDLINE
| ID: mdl-15896661
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.
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Base de datos:
MEDLINE
Asunto principal:
Fases del Sueño
/
Tamizaje Neonatal
/
Acil-CoA Deshidrogenasa
/
Hipoglucemia
Tipo de estudio:
Diagnostic_studies
/
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
País/Región como asunto:
Europa
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2005
Tipo del documento:
Article