Gas Chromatography in Diagnostic Biochemistry of Abnormal Valine Metabolism

Abstract

Amino acids in biological fluids can be rapidly and accurately quantitated by gas chromatography. Modification of existing gas-chromatographic techniques allow as little as 25 µl of biological fluids to be analyzed, compatible with sample sizes easily obtained in pediatric studies. Simplified diagnostic biochemical evaluation of a suspected aminoaciduria can be begun at birth, or shortly after. Normal amino acid patterns are compared with those found in a patient with abnormal amino acid concentrations. Gas chromatographic evidence is presented as a diagnostic aid in the evaluation of a patient with abnormal valine metabolism.