【目的】 研究低苯丙氨酸饮食治疗的苯丙酮尿症(phenylketonuria, PKU)儿童饮食治疗过程中微量营养素、氨基酸、肉碱的营养状况,为寻求其最佳治疗方案提供依据。 【方法】 选取1997年12月－2005年6月经青岛市新生儿疾病筛查中心确诊的PKU患儿46例作为病例组,选取性别、年龄与病例组匹配、无任何躯体及精神疾病的正常儿童61例作为对照组,对所有病例进行血常规、微量元素、氨基酸和肉碱检测。 【结果】 1)两组儿童血锌、铜含量的差异有统计学意义(P<0.05),且病例组儿童锌缺乏明显多于对照组(χ²=7.017,P=0.008); 2)两组儿童血液中天冬氨酸、甲硫氨酸、苯丙氨酸、精氨酸、瓜氨酸、甘氨酸、鸟氨酸含量的差异均有高度统计学意义(P<0.01)。 3)游离肉碱、乙酰基肉碱、丙酰基肉碱、丁酰基肉碱的差异均无统计学意义(P>0.05)。 【结论】 经新生儿疾病筛查得到早期诊断,早期进行常规饮食治疗的PKU患儿仍然存在某些微量营养素缺乏,治疗过程中氨基酸、肉碱虽在正常范围之内,但仍低于正常儿童。因此,必须定期对低苯丙氨酸饮食治疗的PKU的患儿进行氨基酸、肉碱的监测,及时发现并纠正PKU儿童所存在的营养偏差,寻求PKU儿童最佳的饮食治疗方案。

【Objective】 To analysis nutritional problem in children with phenylketonuria treated with dietotherapy,so as to provide a basis for intervention. 【Methods】 46 children with phenylketonuria detected by neonatal screening in Qingdao were studied and compared to 61 matched normal children born at the same time. Nutritional state of the children was evaluated on the blood biochemical parameters,analysis of amino acids in serum respectively. 【Results】 1)The blood Zn,Cu in children with phenylketonuria were lower than those of the normal controls(P<0.05). Zinc deficiency in children with phenylketonuria was significantly higher than the normal controls(χ²=7.017,P=0.008).2)There were significant differences in blood aspartic acid, methionine, phenylalanine, argine, citrulline, glycine, ornithine between children with phenylketonuria and the controls(P<0.01).3)The free carntine,acetylcarnitine,propionylcarnitine and butylcarnitine were no significant differences between the two groups(P>0.05). 【Conclusions】 The present findings strongly suggest that there were nutrient deficiencies in children with phenylketonuria, though having been early-diagnosed and early-treated. Timely identification and correction of the nutrient deficiencies in children with phenylketonuria are important. To seek the best treatment program is the direction of our efforts.