Vela-Amieva M, Ibarra-González I, Belmont-Martínez L, Fernández-Lainez C, Guillén-López S, Monroy-Santoyo S, Hernández-Montiel A

Idioma: Español
Referencias bibliográficas: 37
Paginas: 281-286
Archivo PDF: 152.48 Kb.

RESUMEN

La fenilcetonuria es un error innato del metabolismo de la fenilalanina, descrito por primera vez en 1934 por el Dr. Asbjörn Fölling en Noruega. Esta enfermedad ha sido el paradigma de las enfermedades metabólicas hereditarias; además es la primera que permitió hallar la explicación bioquímica del retraso mental. También dio origen a la búsqueda generalizada de estos problemas en la población de recién nacidos mediante el tamiz neonatal. A diferencia de lo que ocurre en los países desarrollados, en México la fenilcetonuria todavía es causa de retraso mental. Por eso es importante que se conozca la historia de este padecimiento, su situación en México y las perspectivas a futuro.

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