Clustered regularly interspaced short palindromic repeats (CRISPR) is a promising
innovative technology for genomic editing that offers scientists the chance to edit DNA …

Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited
(metabolic) liver defect and is, based on murine models that replicate all human pathology …

Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional
phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in …

Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder
causing accumulation of branched chain amino acids leading to neonatal death, if …

Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused
by the dysfunction of the mitochondrial branched‐chain 2‐ketoacid dehydrogenase (BCKD) …

Abstract Adeno-Associated Virus (AAV)-based gene therapy vectors are in development for
many inherited human disorders. In nonclinical studies, cellular immune responses …

Gene therapy by integrating vectors is promising for monogenic liver diseases, especially in
children where episomal vectors remain transient. However, reaching the therapeutic …

Amino acids are organic molecules that serve as basic substrates for protein synthesis and
have additional key roles in a diverse array of cellular functions, including cell signaling …

Simple Summary Metabolic disorders (MD) are a challenge to healthcare systems; the
emergence of the modern socio-economic system has led to a profound change in lifestyles …

To date more than 1000 different variants in the PAH gene have been identified in patients
with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the …