Phenylalanine is metabolized to produce maleylacetoacetate in a four-step biochemical reaction. Absence of the enzyme homogentisate oxidase causes the buildup of homogentisate, leading to the ...

Pheylketonuria (PKU) is a genetic disorder that affects the metabolism of phenylalanine, an amino acid found in many protein-containing foods. If left untreated, high levels of phenylalanine can ...

As Rare Disease Day is commemorated on 28 February, experts discuss the barriers to gene therapy access for some rare ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...