¿Cómo se diagnostica la Fenilcetonuria?

Aquí puedes ver cómo se diagnostica la Fenilcetonuria. A qué especialista es necesario acudir, qué pruebas son necesarias y otra información de utilidad para el diagnóstico de la Fenilcetonuria

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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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