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[Organization and performance of a selective screening programm for organic acidurias (author's transl)]
Klinische Padiatrie
|July 1, 1979
Insights
Selective screening for organic acidurias is beneficial in children suspected of inborn errors of metabolism. Additional analysis of urinary organic acids alongside serum amino acids improves diagnostic yield.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Clinical Diagnostics
Context:
- Organic acidurias are a group of inherited metabolic diseases.
- Current diagnostic approaches may not fully capture all cases.
- Early identification is crucial for effective management.
Purpose:
- To demonstrate the benefits of a selective screening strategy for organic acidurias.
- To provide detailed indications for expanded metabolic investigations.
- To highlight the importance of analyzing urinary organic acids in conjunction with serum amino acids.
Summary:
- This study advocates for the additional analysis of urinary organic acids in pediatric patients suspected of inborn errors of metabolism, alongside routine serum amino acid testing.
- A comprehensive list of indications for this expanded screening is provided.
- The findings support a more targeted and effective approach to diagnosing organic acidurias.
Impact:
- Improved diagnostic accuracy for organic acidurias.
- Facilitates earlier intervention and management of affected children.
- Enhances the utility of metabolic screening in pediatric populations.
Abstract:
After definition and a short description of organic acidurias, the benefits of a selective screening for this group of diseases are demonstrated. In all children, being suspected to suffer from an inborn error of metabolism and giving rise to investigate the serum amino acids, the urinary organic acids should be analyzed additionally. A more detailled list of indications is given. Some specialized laboratories performed the necessary investigations routinely are announced.