Fenilcetonuria: una actualización de la teoría

Abstract

Phenylketonuria is the most frequent inborn error of metabolism that exists, this pathology is caused by the mutation in the 12q23.2 gene, which is responsible for encoding the enzyme phenylalanine hydroxylase, which is responsible for catalyzing the conversion of phenylalanine into tyrosine and other substrates. When there is a malfunction of said enzyme, phenylalanine accumulates in high blood concentrations, which produces great damage at the neuronal level, which is why its prompt detection through neonatal screening for diseases is imperative. If this pathology is not treated in time, it can lead to severe intellectual disability. The worldwide prevalence of this pathology has been estimated at approximately 1 per 24,000 live births. The treatment of phenylketonuria is mainly based on limiting the intake of phenylalanine, however, there are new therapeutic routes, such as Pegvaliase, a drug of great help to control serum phenylalanine levels, or the new methods that are being developed to treat this pathology, mainly those that have to do with the field of gene therapy, which seeks to use plasmids to improve the quality of life of patients with this condition. A bibliographic review is carried out in different databases and scientific articles, as well as clinical practice guidelines, of which 27 articles were chosen that talk about topics such as its pathophysiology, clinical manifestations, diagnostic methods and available treatments