如何诊断苯丙酮尿症?

查阅诊断苯丙酮尿症的方法。应该挂号什么专科,需要进行什么测试,以及苯丙酮尿症诊断的相关信息

原本


Phenylketonuria (PKU) is usually tested for at birth. Most babies in developed countries are screened for PKU soon after birth. Screening for PKU is done with bacterial inhibition assay (Guthrie test), immunoassays using fluorometric or photometric detection, or amino acid measurement using tandem mass spectrometry (MS/MS). Measurements done using MS/MS determine the concentration of Phe and the ratio of Phe to tyrosine, the ratio will be elevated in PKU.

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