フェニルケトン尿症はどのように診断されていますか?

フェニルケトン尿症の診断方法を参照してください。どんな専門家が会合するために必須であるか、どの検査が必要であるか、およびフェニルケトン尿症

元の


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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