Advances in research of molecular mechanism of phenylketonuria and its treatments

Abstract

Phenylketonuria (PKU) is a severe autosomal recessive disease which can cause irreversible damage to patients' neural system and results in severe mental retardation.Although the institution of a lowphenylalanine (Phe) diet has been a remarkable success in preventing the devastating damage associated with untreated PKU,there are always small but consistent gap in intelligence quotient (IQ) scores and executive functioning when compared to siblings or healthy age-related control groups.During the past few years,several types of new treatment strategies,such as genetic engineering,enzyme replacement,tetrahydrobiopterin (BH4),large neutral amino acids (LNAA),low-Phe diet and liver or liver cell transplantation therapies,have been studied and improved.This paper aims to introduce the research advances in pathogenesis of PKU,the treatment methods and the related molecular mechanism. Key words: Phenylketonuria; Genetic engineering; Phenylalanine hydroxylase; Phenylalanine ammonia lyase