Abstract
Since 1981, neonatal screening of hyperphenylalaninemia(HPA)has been carrying on in China.The newborns with phenylketonuria(PKU) have been good growthing and developing.Some of them already take part in the marriage period.The fetal brain developmental disorders and various teratogenesis could be leaded if the pregnant women with PKU have high blood concentration of phenylalaninine, namely, maternal PKU syndrome would happen.Now, the international latest progress, including mechanism, prevention, tetrahydrobiopterin support treatment of maternal PKU and the comprehensive management for adult female patients with PKU were summarized, and would like to provide some references for preventing the occurrence of maternal PKU syndrome. Key words: Maternal phenylketonuria; Hyperphenylalaninemia; Tetrahydrobiopterin deficiency; Sapropterin dihydrochloride
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