Research progress of phenylketonuria and its releveant treatment
NIU Rui-qing
FENG Wen-hua
Abstract：Phenylketonuria (PKU) is an autosomal recessive disorder.The deficiency in the number or activity of phenylalanine hydroxylase (PAH) or the insufficiency of its cofactor tetrahydrobiopterin (BH4),results in the inability to convert phenylalanine to tyrosine,leading to an increased concentration of phenylalanine in blood.If untreated timely,PKU can cause severe damage to central nervous system.So neonatal screening is very important to avoid intellectual disability.The primary management of PKU is to restrict intake of phenylalanine or supplement tetrahydrobiopterin.This article reviews the pathogenesis,clinical classification,symptoms,and current and future treatment to phenylketonuria.
Keywords：phenylketonuriaphenylalanine hydroxylase (PAH)pathogenesisclinical classificationtreatment
Publication Date：2018-01-01
Online Publishing Date：2026-08-14(First online date of this platform, not the publication date of the document)
Pages：5( 154-158 )