Screening and treatment of phenylketonuria.docVIP

 PAGE \* MERGEFORMAT 13 Screening and treatment of phenylketonuria Of: Jiang Zhao, Deng Yanchun, Zhang Guofeng, Wang, adding that together, Qin Xiaoqin [Keywords:] phenylalanine; phenylketonuria; tetrahydrobiopterin Phenylketonuria is the most common genetic disease of amino acid metabolism, is one of the few treatable, genetic, metabolic diseases, by limiting the intake of phenylalanine for treatment. In this paper, acetone, benzene Urine screening and treatment were reviewed and summarized in order to improve the diagnosis rate of the disease, so people with phenylketonuria and hyperphenylalaninemia patients benefit from early treatment. 1 The pathogenesis of phenylketonuria PKU (Phenylketonuria, PKU) is an autosomal recessive genetic disease, was due to phenylalanine hydroxylase (Phenylketonuria hydrox-2-lase, PAH) gene mutations, resulting in reduction or loss of PAH activity and phenylalanine (Phenylalanine, Phe) in the liver caused by metabolic disorders. phenylalanine metabolism in normal circumstances, the main way is through the liver cells into tyrosine PAH to synthetic thyroxine, epinephrine, and melanin, etc.. PKU patients because of the lack of PAH, Phe hydroxylation of tyrosine is not, but through another pathway, namely Phe and @ - ketoglutaric acid transaminase and generated phenylketonuria, a large number of phenylpyruvic acid in the blood and tissue accumulation and excretion in the urine, the formation of PKU. end of 2003, more than 400 different sites of PAH gene mutations were confirmed, including 29 in Europe alone the typical PAH gene mutations, and was the regional distribution of [1] . China scholars in Beijing PKU patients in the PAH gene mutations suggest a common mutations R243Q/EX6-96Agt; G/Y356X, etc. [2]. currently considered PAH gene mutations in Northern China type and the rest of Asia are similar, but and European populations are significantly different [3]. Phe into tyrosine in addition to PAH in the process, bu