Letter: Screening 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

Screening for Phenylketonuria in Chronic Psychiatric Inpatients

This study was aimed to screen the patients for phenylketonuria among chronic psychiatric inpatients. A total of 577 cases were studied which included mentally retarded patients, schizophrenics and those suffering from depressive disorders. During the extensive screening not a single positive case could be identified. The findings of this screening support the previous studies. Looking at low i...