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

More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in
people with phenylketonuria (PKU). These vary in their consequences for the residual level …

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

Amino acids serve as key building blocks and as an energy source for cell repair, survival,
regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a …

This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …

The functional role of long noncoding RNAs (lncRNAs) in inherited metabolic disorders,
including phenylketonuria (PKU), is unknown. Here, we demonstrate that the mouse lncRNA …

Advances in synthetic biology and the clinical application of bacteriotherapy enable the use
of genetically engineered bacteria (GEB) to combat various diseases. GEB act as a small …

This systematic review and meta-analysis (MA) investigates the impact of elevated blood
phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU) …

Background & Aims Hepatocyte transplantation partially corrects genetic disorders and has
been associated anecdotally with reversal of acute liver failure. Monitoring for graft function …

Phenylalanine hydroxylase (PAH) deficiency is an inborn error of metabolism that results in
elevated phenylalanine levels in blood. The classical form of the disease with phenylalanine …