RESUMO
Phenylketonuria is a most common group of genetic metabolic diseases.Phenylketonuria is caused by enzymatic defects in the metabolic pathway,which is characterized by high blood phenylalanine concentration.Patients need early,reasonable treatment once diagnosis,otherwise there will be serious nervous system sequelae.Available treatments aim to decrease the blood phenylalanine concentration,reduce nervous system symptoms.The current primary treatment of phenylketonuria is the limitation of dietary phenylalanine intake.Considering the poor compliance with long-term eating restrictions and the heavy family burden,the application of new medicine such as trahydropterina cofactor,glycomacropeptide,large neutral amino acids can improve the therapeutic effect and living condition of phenylketonuria patients.In addition,recombinant phenylalanine ammonia lyase,hepatocyte transplantation,gene therapy,probiotics and other new treatments also seem to be a promising approach in the near future.