A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants.

A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, by Robert Guthrie and Ada Susi, Pediatrics, 1963;32:318-343.

A New Enzymatic Method for Rapid Diagnosis of Phenylketonuria Using Alkaliphilic Bacillus

Rapid and in time diagnosis of phenylketonuria (PKU) in affected infants can help preventing the progress of mental and developmental disorders associated with the disease. Here we report the isolation of alkaliphilic Bacillus bacteria capable of producing high level of Phenylalanine dehydrogenase (PheDH) from soil. A new quantitative and rapid test for PKU diagnosis was then developed using th...

Mass Screening of Newborns in Ireland

Phenylketonuria was, until recently, regarded as a very rare disease with an estimated incidence of between 1 in 18,000 and 1 in 40,000 (Centerwall, Berry, and Woolf, 1963). The results of massscreening surveys of newborns in the United States showed that the incidence was approximately 1 in 10,000 (MacCready and Hussey, 1964), while a similar experience in Israel showed an incidence of 1 in 90...

New Enzymatic Colorimetric Method for the Quantitative Determination of Phenylalanine in Dry-Blood Spots

Phenylketonuria (PKU) is an autosomal recessive disorder, which is characterized by severe mental retardation, microcephaly and seizures. The symptoms of this disease can be prevented if detected soon after birth. Therefore, blood Phenylalanine (Phe) measurement is essential for the early diagnosis, treatment and dietary monitoring of PKU patients. The goal of this research was to introduce a r...

The National Institute of Child Health and Human Development and phenylketonuria.

The National Institute of Child Health and Human Development (NICHD) was established shortly after the Guthrie test for screening newborn infants for phenylketonuria (PKU) was introduced. The NICHD supported the study demonstrating the long-term efficacy of screening and a low-phenylalanine diet in preventing mental retardation. With the identification of the adverse impact on fetal development...