高苯丙氨酸血症患儿尿中代谢物水平分析
Journal of Clinical Pediatrics(2012)
Abstract
目的 通过检测高苯丙氨酸血症 (HPA) 患儿血苯丙氨酸 (Phe) 及尿苯丙酮酸、苯乙酸及苯乳酸水平,探讨其血Phe水平与尿代谢产物的关系.方法研究对象为55例HPA患儿,其中20例为轻度HPA (血Phe浓度<360 mmol/L)、35例为苯丙酮尿症 (PKU,血Phe浓度 360~1 200 mmol/L);血Phe水平检测采用串联质谱干血滤纸片法;尿苯丙酮酸、苯乙酸及苯乳酸水平检测采用尿素酶预处理气相色谱-质谱法.结果 HPA患儿血Phe水平与尿苯丙酮酸、苯乙酸及苯乳酸水平呈正相关 (r =0.61~0.84,P 均< 0.01).轻度HPA与PKU患儿尿苯丙酮酸、苯乙酸及苯乳酸水平差异有统计学意义 (P 均<0.01);70%轻度HPA患儿及5.71% PKU患儿的尿苯丙酮酸、苯乙酸及苯乳酸水平正常.结论 HPA患儿尿中苯丙酮酸、苯乙酸及苯乳酸水平的变化与血Phe浓度密切相关,单纯检测尿苯丙酮酸、苯乙酸及苯乳酸可能导致假阴性.
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Key words
phenylpyruvate,phenyllactate,phenylacetate,phenylalanine
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