A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluated and adapted to a neonatal screening programme. Using this assay, it is possible to determine quantitatively the phenylalanine concentration in dried blood spots on filter paper. The test exhibited a linear calibration curve with a good slope as well as sufficient precision and accuracy in the statistica...

A simple paper chromatographic method was found to be effective for the study of phenylketonuria and tyrosyluria. It proved to be much more reliable than conventional tests for the detection of abnormal amounts of ketoacids in urine and was suitable and convenient for following the effects of dietary variations on the excretion of these compounds. Information obtained about ketones other than t...

A case of phenylketonuria presented below was associated with leucodystrophy (Schilder's disease), a combination previously observed by other workers in three older phenylketonuric patients. The present case was the oldest patient in a series of six phenylketonuric individuals coming to necropsy and examined pathologically at this hospital. None of the other patients, four of whom were reported...