PEDIATRICS Vol. 102 No. 1 Supplement July 1998, pp. 236-237
COMMENTARY:
A Simple Phenylalanine Method for Detecting Phenylketonuria
in Large Populations of Newborn Infants, by Robert Guthrie and
Ada Susi, Pediatrics, 1963;32:318-343
Received Mar 19, 1998; accepted Mar 19, 1998.
From the DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec H3H 1P3 Canada
The article describes a "microbial
inhibition assay" for rapid and economical measurement of
phenylalanine levels in whole blood. Capillary blood, from a heel
prick, is collected from the newborn infant onto Schleicher and Schuell
no. 903 filter paper; a disk of the sample is then transferred to an
Agar plate containing a heavy inoculum of Bacillus subtilis
ATCC 6051; an inhibitor of bacterial growth (
-2-thienylalanine) is
counteracted by any significant excess of phenylalanine in the blood
sample; and semiquantitative positive tests (hyperphenylalaninemia) are
recorded by size of the bacterial growth zone in the Agar around the
filter paper disc. The method permits mass screening for
hyperphenylalaninemia.




