【Object】 To discuss the classification and treatment effect evaluation and genetic analysis of hyperphenylalaninemia(HPA) in Shandong. 【Mthods】 396 cases of HPA diagnosed by newborn screening in Jinan Classified according to BH4 loading test and urine pterin analysis.Different treatments were given and mornitor the concentration of Phe.The treatment effect was evaluated by the body development and mental development. 【Result】 Among 396 cases of HPA, 356 of them were PAHD,40 cases of BH4D,128 cases of BH4 responsed PAHD.There was no statistically significant difference between the different types of HPA patients and normal children by the body development,including weight and height.132 cases of HPA patients had normal mental development among 155 HPA.IQ of classical PKU( PAHD) showed negative correlation with the concentration of phe.IQ of BH4D patients corresponded with the diagnosed time.There were 6 gene mutation among 11 BH4D patients.42.1% of them were 259C>T. 【Conclusions】 The different clinic and biochemical HPA patients have no statistically significant difference for the body development after treatment while they have statistically significant difference for the intelligence development.The intelligence development level for Classical PKU corresponded with the concentration of Phe while that for BH4D corresponded with the diagnosed time.259C>T is the most common mutation of BH4D.