COMPARATIVE GAS CHROMATOGRAPHIC (GC) ANALYSIS OF SERUM AND URINE ORGANIC ACIDS IN HEALTHY TERM INFANTS

Abstract

In a search for the optimal time to apply GC screening procedures to newborn physiological fluids and to assess the effect of formula feeding on biologically important organic acids, we have surveyed serum and urinfe from 31 normal babies, at 1 and 5 days of age. Our results have demonstrated the presence of more than 50 organic acids, half of which bear some relation to the more common organic acidopathies. Their significant rise in serum and urine after formula feeding suggests that a comparable method of screening for those organic acids known to be associated with disease, should preferably be applied after 5 days of life. The usefulness of serial analysis was suggested by the presence of possibly harmful metabolites in 3 serum at day 1, with normal levels at day 5. These included isovaleric, methylmalonic, benzoic, phenylacetic and p-hydroxyphenylacetic acids. We have applied our method to the investigation of 4 patients presenting abnormal amino aciduria and found large amounts of those phenolic acids characteristic of tyrosinemia and hyperphenylalaninemia.

These findings support the reliability of our procedure in screening for metabolic disease in laboratories where mass spectrometry is unavailable. This work was supported by the Medical Research Council of Canada, Grant MA 4767.

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