A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism

GUTHRIE'S1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria. Although phenylketonuria is the best known it is by no means the only inborn error of amino acid metabolism characterized by the accumulation of large amounts of one or more amino acids in the blood. Ten such disorders have been reported in the literature.4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 These are listed in Table 1, together with their most striking clinical features. Several others are known to be under investigation. All except tyrosinosis have been associated with mental retardation in some if not all persons affected.This report describes . . .