Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those...

Introduction Though based firmly on the "old fashioned" disease of phenylketonuria, whole population blood based neonatal screening is a technique with many potential uses. Most never enter general service despite their technical feasibility, reflecting mainly the perceived balance between costs and benefits. For historical reasons there is an underlying assumption that neonatal screening shoul...

Investigations were undertaken to discover the effect and importance of technical factors in the Guthrie test and to determine the most satisfactory materials available. These findings were used in setting up the screening service for phenylketonuria for the South West Metropolitan Region.

First, I thank Mary-Claire for the wonderful introduction. As Mary-Claire noted, I moved here in 1967, when the Red Sox clinched the pennant for the first time after a long drought and then went on to play the St. Louis Cardinals, as they do again this year. I became a Red Sox fan in 1967 and survived the disappointments of 1975 and 1986, but eventually in 2004 they did win, and so I’m excited ...

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...

2 groups of children with phenylketonuria, those with a history of early sensory restriction or isolation and those without, were compared on measures of (a) interpersonal behavior, (b) language comprehension, (c) intelligence, and (d) incidence and severity of personality disturbances. The findings, discussed in the context of sensory-deprivation and sensory-restriction research, supported the...

OBJECTIVE To convene a small group of experts in diagnosis and management of PKU to discuss the following issues: the Subject Review of PKU management being performed by the American Academy of Pediatrics (AAP) Committee on Genetics (COG), the published British guidelines on PKU management, and the feasibility, suitability, and mechanism of developing PKU management guidelines for the United St...