【Objective】 To study on the prognosis of patients in hyperphenylalaminemia(HPA). 【Methods】 The neonatal screening, diagnosis and treatment starting time were considered in the follow-up study. The neuroimaging, MRI and 1HMRS were also performed in parts of these patients and the results were also considered as the index of prognosis. 【Results】 1)Of 1 066 patients 1 016 cases were diagnosed as phenylketonuria(PKU) and of which 50 cases were diagnosed as BH4D. Among the patients in PKU, 369(34.62%)were treated within 3 months after the neonatal screening, and 241(22.62%), 456(42.78%) were diagnosed and treated in 3~12 months and afterwards respectively. 2)The DQ of the patients who were treated within 3 months after the neonatal screening were much higher than that of non-screening patients(96±15,69±11;t=14.19,P<0.01). 3)The DQ of the patients who were treated later than 3 months were also highly improved after treatment(46±15 and 69±11,t=7.13,P<0.05). 4)There was a negative correlation between blood-brain Phe concentration to the mental retardation rblood=0.505, rbrain=0.647,P<0.01) in 22 cases of the HPA patients. 【Conclusion】 The long-term outcome of these patients benefits from early diagnosis and treatment, and the strict control of phe concentrations can minimize the mental retardation in HPA patients.
Key words
hyperphenylalaninemia /
phenylketonuria /
neonatal screening /
dietary treatment
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