苯丙氨酸负荷实验筛选苯丙酮尿症杂合子

Phenylalanine loading test for phenylketonuria heterozygotes screening

目的初步建立口服苯丙氨酸负荷实验筛选苯丙酮尿症(PKU)杂合子的方法。方法采用病例对照研究,观察4例PKU杂合子(为已确诊PKU患儿的父母)和4例年龄、性别、体质量与前者相匹配的健康对照者,空腹、口服苯丙氨酸后1、2、3、4、6、24 h,血清苯丙氨酸(Phe)、酪氨酸(Tyr)浓度及其比值(Phe/Tyr)的变化。血清Phe、Tyr浓度采用高效液相色谱仪测定。结果口服Phe 2 h,PKU杂合子与对照者的Phe/Tyr均达到峰值,两者间血清Phe浓度和Phe/Tyr呈现显著差异(P<0.05);且两者之间的数值范围无重叠,其中Phe/Tyr的差距更大。结论口服苯丙氨酸负荷实验有助于筛选人群中的PKU杂合子。

Objective To establish a method of oral phenylalanine loading test for screening phenylketonuria （PKU） hctcrozygotes. Methods Use case control study, four PKU heterozygotes （parents of PKU patient） and four healthy adults （con- trol） were included in this study. The blood obtained from ulnar vein were collected at 0 （base line）, 1, 2, 3, 4, 6, 24 hours after administration of Phc orally. The high performance liquid chromatograph was used to determine the blood serum Phe and Tyr levels, calculate their ratios. Results The levels of Phe and Phe/Tyr reached the peak at 2 hours in case and control. There were significant differences between cases and controls in the Phe and Phe/Tyr levels at 2 hours, no overlapping was observed, espe- cially in the Phe/Tyr level. Conclusions The oral phcnylalaninc loading test will be helpful to screen PKU heterozygotes.