Galactosemia: Revisión de la literatura
Resumen
La galactosemia es un trastorno hereditario del metabolismo de la galactosa causado por una actividad deficiente en una de las cuatro enzimas de la vía de Leloir. La forma clásica y severa de presentación es la deficiencia de Galactosa-1-fostato uridiltransferasa (GALT) la cual se manifiesta prácticamente desde el periodo neonatal como una enfermedad potencialmente mortal y cuyo cuadro clínico puede resolverse con la restricción de la galactosa de la dieta; sin embargo, en algunos casos el tratamiento ha demostrado ser insuficiente para prevenir complicaciones a largo plazo tales como deficiencias cognitivas, sociales y reproductivas.
El objetivo del presente artículo, es realizar descripción detallada de la galactosemia, sus variantes clínicas y bioquímicas, así como diagnóstico y manejo de manera que el medico pediatra este familiarizado con esta enfermedad, tenga un alto índice de sospecha y pueda realizar una detección temprana.
Citas
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