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[Selective screening for organic acidurias (author's transl)]
Insights
Selective screening for organic acidurias in hospitalized children is recommended. Gas chromatography can effectively identify these metabolic disorders in pediatric patients with suggestive symptoms.
Area of Science:
- Biochemistry
- Pediatrics
- Medical Diagnostics
Abstract:
The difference between mass screening of all newborns and selective screening of certain sick newborns is defined and the characteristic clinical features of organic acidurias are outlined. According to own experiences during the last 5 years, the author pleads for the introduction of a systematically performed selective screening for organic acidurias by gas chromatography on all hospitalized pediatric patients showing symptoms suggesting inborn errors of metabolism. Two or three well equipped laboratories should be enough to cover demands for all the pediatric beds in the Federal Republic of Germany. Some results of our selective screening for organic acidurias are presented.