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Fenilcetonuria

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Fenilcetonuria

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Fenilcetonuria
 

FenilcetonuriaOnline version

Es correcta o no la afirmación

by Fátima Jatziri Díaz Camarillo
1

La Fenilcetonuria (PKU) es una condición genética donde el cuerpo no puede procesar la fenilalanina por falta de una enzima específica. Su acumulación es tóxica para el sistema nervioso

2

Es un trastorno de herencia autosómica recesiva causado por mutaciones en el gen PAH (cromosoma 12q23.2).

3

¿La fenilalanina es un veneno que no debería estar en el cuerpo humano?

4

Reportes específicos que señalan cerca de 6 casos por cada 100,000 nacidos vivos.

5

El tratamiento consiste en una dieta estricta y de por vida, baja en proteínas (eliminando carne, pescado, huevos y lácteos)

6

El diagnóstico se realiza mediante el tamiz neonatal (prueba del talón)?

7

No es una enfermedad de herencia autosómica recesiva.

8

Puede causar piel y ojos claros (ya que la fenilalanina interviene en la producción de melanina

9

Su causa es:Deficiencia de la enzima fenilalanina hidroxilasa (PAH), generalmente por un gen defectuoso en el cromosoma 12 en el brazo largo

10

"¿Se puede detectar la PKU simplemente viendo si el bebé tiene un color de piel o de ojos claro?"

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