Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

Classic phenylketonuria (PKU) is caused by defective activity of phenylalanine hydroxylase
(PAH), the enzyme that coverts phenylalanine (Phe) to tyrosine. Toxic accumulation of …

The third edition of this established reference is the product of the combined efforts of many
professionals–obstetricians, pediatric cardiologists, sonographers, molecular biologists, and …

Phenylketonuria (PKU), an inborn error in phenylalanine metabolism, requires lifelong
nutrition management with a low-phenylalanine diet, which includes a phenylalanine-free …

Discusses the teratology of congenital malformations in humans and the establishment of
their environmental causes. The article first explores various aspects of congenital …

OBJECTIVE: To evaluate nutrient intakes, plasma phenylalanine (PHE) and tyrosine (TYR)
concentrations, and physical growth of children with phenylketonuria undergoing nutrition …

Background: Untreated maternal phenylketonuria or hyperphenylalaninemia may result in
nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability …

Mental retardation (MR) is a manifestation of a heterogeneous set of impairments and
conditions that result in cognitive limitation. It is a condition of medical, educational, and …

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 …

Primary inherited hyperphenylalaninaemia is probably best defined as a ratio of blood
phenylalanine to tyrosine persistently greater than 3 (approximate normal ranges for blood …