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.
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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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Duran, M., Dorland, L., Wadman, S.K. et al. Group tests for selective screening of inborn errors of metabolism. Eur J Pediatr 153 (Suppl 1), S27–S32 (1994). https://doi.org/10.1007/BF02138774
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DOI: https://doi.org/10.1007/BF02138774