Objective. The maternal phenylketonuria (PKU) syndrome is caused by high blood
phenylalanine (Phe) levels during pregnancy, leading to a host of birth defects, especially …

(1) Background: Poor palatability, large volume, and lack of variety of some liquid and
powdered protein substitutes (PSs) for patients with phenylketonuria (PKU) and tyrosinemia …

Background Transition from pediatric to adult health care is a particularly vulnerable period
for patients with inborn metabolic diseases. Aim of the present study was to evaluate the …

Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our
study aimed to describe the metabolic control of patients with phenylketonuria (PKU) …

Despite having average intellectual abilities, academic difficulties are relatively common in
children and adolescents with PKU. These academic difficulties may be a function of …

In recent years, an increasing number of national guidelines on the treatment of
phenylketonuria (PKU) have emerged. Most of these guidelines are dedicated to the care of …

Objectives Regular and accurate monitoring of blood phenylalanine (Phe) and tyrosine (Tyr)
levels is prerequisite for a successful management of patients with hyperphenylalaninemia …

Background Metabolic control in phenylketonuria (PKU) may be influenced by parental
ability because dietary treatment involves complex food choices. This is an observational …

Phenylketonuria (PKU) is caused by a mutation in the phenylalanine (phe) hydroxylase
gene and requires a low-phe diet plus amino acid (AA) formula to prevent cognitive …

There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment
on growth. To date, evidence from studies is inconsistent, and data on the whole …