Screening tests for phenylketonuria.

Screening for Phenylketonuria

Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...

Neonatal screening for phenylketonuria.

The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im­ prove the sensitivity of PKU screening procedures for newborns.

Screening for Phenylketonuria

Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...

Present Newborn Screening for Phenylketonuria

Simplified procedure for producing Bacillus subtilis spores for the Guthrie phenylketonuria and other microbiological screening tests.

Bacillus subtilis ATCC 6051 and ATCC 6633 spores used in bacterial inhibition screening assays for genetic metabolism defects in newborn infants were produced by using liquid synthetic replacement sporulation media. These media allowed a high degree of sporulation, as judged by direct cell counts. Sporulation took place within 23 to 27 h with these media. Also, a more rational procedure for sel...