Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized
countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted …

The frequency and types of congenital heart disease in offspring from pregnancies in women
with hyperphenylalaninemia were examined in the international prospective Maternal …

Background Phenylketonuria (PKU) is often considered as the classical example of a genetic
disorder in which severe symptoms can nowadays successfully be prevented by early …

Objective: The purpose of this report was to update the results of the Maternal Phenylketonuria
Collaborative Study, which was established to assess the efficacy of a phenylalanine-…

The major cause of hyperphenylalaninemia is mutations in the gene encoding phenylalanine
hydroxylase (PAH). The known mutations have been identified primarily in European …

Objective. To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to
biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). …

Objective: The purpose of this study was to evaluate the efficacy of a phenylalanine-restricted
diet in reducing fetal morbidity associated with maternal hyperphenylalaninemia in women …

OBJECTIVES To review the status of universal newborn screening programs in Canada.
METHODS A brief questionnaire (seven questions) was circulated to one key individual in each …

Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial
dysfunction by keeping plasma phenylalanine concentrations within the recommended …

… (b) What are the implications of these findings for the need for treatment of individuals
diagnosed with MHP? We acknowledge that the relatively large number of analyses undertaken …