Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …

New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000 …

Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …

The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals
with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since …

Fifty years after the implementation of universal newborn screening programs for
phenylketonuria, the first disease identified through newborn screening and considered a …

Autism spectrum disorder (ASD) is a developmental disorder of variable severity,
characterized by difficulties in social interaction, communication, and restricted or repetitive …

Introduction Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase
(PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This …

While genetics constitutes an important part of medical education, one can observe a lack of
knowledge about rare diseases (RD) among medical students and healthcare professionals …