Progress in molecular genetics of hyperphenylalanemia

Hyperphenylalaninemia is a common group of inherited metabolic diseases.It is characterized by the increased concentration of plasma phenylalanine.The metabolism of phenylalanine requires phenylalanine hydroxylase and coenzyme tetrahydrobiopterin.These enzymes cannot function normally if there is any mutation in their encoding genes.Children suffering from hyperphenylalaninemia without promptly treatment may present mental development delay and other serious nervous system sequelae.With the technical improvement of molecular genetics, there have been many progresses in the study of genetic diagnosis, genotype-phenotype correlation and gene therapy of hyperphenylalaninemia.This article reviews the history and classification of hyperphenylalaninemia, the characteristics of gene mutation, the methods of genetic diagnosis, the genotype-phenotype correlation, and the progress of new therapy. Key words: Hyperphenylalaninemia; Phenylalanine hydroxylase; Molecular genetics; Gene