Phenylalaninemia or phenylketonuria is a disease caused by a recessive disorder in
phenylalanine metabolism. Several tests have been conducted to determine its genetic …

Background Inborn errors of metabolism are genetic conditions which can lead to
abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been …

The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after
one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at …

Homocysteine (Hcy) and in particular methylmalonic acid (MMA) are considered reliable
parameters for vitamin B12 status in healthy individuals. Phenylketonuria (PKU) patients are …

Aims l-Carnitine exerts an important role by facilitating the mitochondrial transport of fatty
acids, but is also a scavenger of free radicals, protecting cells from oxidative damage …

Background Ubiquinone-10 is a lipid with important metabolic functions that may be
decreased in phenylketonuria (PKU) because patients with PKU consume diets restricted in …

The recent literature on polyunsaturated fatty acid metabolism in phenylketonuria (PKU) is
critically analyzed. The data suggest that developmental impairment of the accretion of brain …

Background Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine
restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated …

Background: In patients with phenylketonuria (PKU), the carnitine status may be impaired for
metabolic or dietary reasons, including low carnitine intake, a deficient synthesis and …

Purpose: The objective of the study was to determine the incidence of vitamin B12 deficiency
in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia …