苯丙酮尿症(PKU)是新生儿先天性苯丙氨酸羟化酶缺陷所引起的苯丙氨酸代谢障碍疾病.本研究采用超高效液相色谱-质谱联用技术, 测定了5例PKU新生儿出生3天和出生30天后的血斑与20例年龄相仿的正常新生儿血斑中辅酶Q10的绝对含量和辅酶Q9的相对含量,其中,健康新生儿血斑中辅酶Q10的含量为(122.1±24.9) ng/mL,PKU新生儿组的含量为(59.0±12.0) ng/mL.采用气相色谱-质谱联用技术测定了胆固醇和葡萄糖的相对含量.研究结果表明,与对照组相比,PKU新生儿血斑中辅酶Q10、Q9、胆固醇和葡萄糖的含量均显著降低,辅酶Q10的降低与血斑中苯丙氨酸含量升高呈现显著反向相关.本研究结果为PKU患儿的饮食治疗方案提供了依据.%Phenylketonuria (PKU) is a newborn inherited metabolic disorder caused by the genetic deficiency of hepatic enzyme phenylalanine hydroxylase (PAH) which thus in metabolic disorder of phenylalanine. In this study, ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method was used to analyze the accurate amount of coenzyme Q10 (CoQ10) and the relative amount of CoQ9 in newborn dried blood spot (DBS) collected from 5 PKU newborns (3 and 30 days after birth, respectively) and 20 healthy newborns. The content of CoQ10 was (122.1±24.9 ng/mL) and (59.0±12.0 ng/mL) in DBS from healthy newborns and PKU newborns, respectively. The relative contents of cholesterol and glucose in the DBS were determined by gas chromatography-mass spectrometry (GC-MS). In comparison with healthy newborn group, the levels of CoQ10, CoQ9, cholesterol and glucose were all significantly decreased in PKU newborns. The increased content of Phe and the decreased content of CoQ10 showed significant inverse correlation in the DBS from PKU. This study provides references for diet therapy of PKU newborns.
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