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European Journal of Pediatrics

, Volume 153, Supplement 1, pp S27–S32 | Cite as

Group tests for selective screening of inborn errors of metabolism

  • M. Duran
  • L. Dorland
  • S. K. Wadman
  • R. Berger
Article

Abstract

Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme may involve the analysis of amino acids, organic acids, imidazoles, purines and pyrimidines, oligosaccharides and mucopolysaccharides in urine as well as very longchain fatty acids in plasma. The experienced laboratory, in close co-operation with a specialized paediatrician, will make a positive diagnosis in 6% of the refered samples, providded a careful selection of the patients is made. Our experience of 10 years of screening revealed 100 different defects; 30% of these were so-called amino acid disorders, 50% organic acidurias and the remaining 20% miscellaneous defects. Chromatographic methods are well suited for the discovery of novel defects. In this respect group screening tests will remain of major importance for the study of inborn errors of metabolism.

Key words

Chromatographic methods Amino acids Organic acids Purines/pyrimidines Very long-chain fatty acids 

Abbreviations

GC

gas chromatography

HPLC

high performance liquid chromatography

MCAD

medium-chain acyl-CoA dehydrogenase

PC

paper chromatography

TLC

thin-layer chromatography

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • M. Duran
    • 1
  • L. Dorland
    • 1
  • S. K. Wadman
    • 1
  • R. Berger
    • 1
  1. 1.Het Whilhelmina KinderziekenhuisUniversity Children's HospitalUtrechtThe Netherlands

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