论文部分内容阅读
【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 investigate the nutritional status of micronutrients, amino acids and carnitine during the dietary treatment of phenylketonuria (PKU) patients treated with low phenylalanine diet, so as to provide basis for seeking the best treatment plan. 【Methods】 Forty-six PKU patients diagnosed by Qingdao Newborn Disease Screening Center from December 1997 to June 2005 were selected as the case group. Normal children without gender and age matched with the case group and without any physical and mental illness 61 cases as a control group, all cases of blood tests, trace elements, amino acids and carnitine detection. 【Results】 1) There was a significant difference in zinc and copper levels between the two groups (P <0.05), and zinc deficiency in the case group was significantly more than that in the control group (χ2 = 7.017, P = 0.008); 2) The blood levels of aspartate, methionine, phenylalanine, arginine, citrulline, glycine and ornithine in children were significantly different (P <0.01). There was no significant difference in free carnitine, acetyl carnitine, propionyl carnitine and butyryl carnitine (P> 0.05). 【Conclusion】 There are still some micronutrient deficiencies in PKU patients diagnosed early after neonatal screening. Early treatment with routine dietary therapy still has some micronutrient deficiencies. Although amino acids and carnitine are within the normal range during treatment, they are still lower than those of normal children . Therefore, regular monitoring of amino acids and carnitine in PKU patients treated with low-phenylalanine diet should be carried out to detect and correct the nutritional deviation of PKU children in time to find the best dietary treatment plan for PKU children.