Abstract: 【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 r_blood=0.505, r_brain=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

摘要： 【目的】 了解高苯丙氨酸血症(hyperphenylalaminemia, HPA)患者治疗随访及预后。 【方法】 对在本院诊断治疗的1 066例HPA的治疗随访结果进行回顾性分析。 【结果】 1)在1 066例HPA患儿中,共有1 016例为苯丙氨酸羟化酶缺乏症,即经典型苯丙酮尿症(phenylketonuria, PKU),50例为四氢生物蝶呤缺乏症(tetrahydrobiopterin deficiency, BH₄D)。在这些PKU患者中,有369例(34.62%)患儿在新生儿筛查时被确诊并在3个月内开始规律治疗,241例(22.61%)在生后3～12个月内确诊, 456例(42.78%)在1岁后才确诊。2)3个月内筛查治疗的患儿智力发育明显高于非筛查确诊的患儿(96±15, 69±11;t=14.19,P＜0.01﹚。3)3个月后才确诊的经治疗后智力水平也有明显提高﹙46±15,69±11,t=7.13,P＜0.05﹚。4)氢质子磁共振波谱(¹HMRS)检测22例HPA患儿的脑苯丙氨酸(phenylalanine, Phe)浓度表明患儿血、脑Phe浓度与智商均呈负相关关系(r_血=0.505,r_脑=0.647,P<0.01)。 【结论】 对所有HPA患者均应进行鉴别诊断,尽早确诊和治疗, 控制血、脑苯丙氨酸浓度是减少智能落后的有效措施。

关键词: 高苯丙氨酸血症, 苯丙酮尿症, 新生儿筛查, 饮食治疗