In the South-eastern Scotland Hospital Region, with roughly 1,500,000 inhabitants, the Phenistix test was used to search for phenylketonuria in young infants until the end of 1965. An earlier study (Farquhar, Kansas, and Tait, 1962) admitted that the test had missed positive cases during the critical early months of life. Further cases were missed during the ensuing years, and as other tests we...

Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to minimise the potentially disabling neuropsychological sequelae of the disorder. Research in this area has unsurprisingly focussed largely on managing blood Phe concentrations to protect the brain. Protein requirements in dietary management of PKU are met mostly from Phe-free protein substitutes wit...

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.

In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the characterization of the PAH genotypes of 115 patients with PKU from the southeast region of Brazi...

The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor. Patients with PKU (usually, but not exclusively, with a relatively mild form of the disorder) who are responsive to treatment with pharmacological doses of tetrahydrobiopterin (BH4) have either lower concent...

During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This stud...

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

Blaskovics, M. E., Schaeffler, G. E., and Hack, S. (1974). Archives of Disease in Childhood, 49, 835. Phenylalaninaemia: differential diagnosis. A method is described for differentiating the phenylalaninaemias based upon blood phenylalanine (phe) responses to ingestion of natural protein diets with standard phe content. A classification scheme derived primarily from these studies is suggested w...

With this method, picomole amounts of phenylalanine and tyrosine can be rapidly separated and directly measured by absorbance at 206 nm. As little as 25 microliters of serum or plasma suffices. Plasma is deproteinized and 20 microliters of the supernate, representing 1.8 microliters of plasma, is applied to a reversed-phase column and eluted isocratically with a solution containing methanol and...