Galactosemia tipo III

  1. Brokate Llanos, Ana María
  2. Muñoz Ruiz, Manuel Jesús
Revista:
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria

ISSN: 2254-3821

Año de publicación: 2013

Número: 2

Tipo: Artículo

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Otras publicaciones en: Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria

Resumen

Un gran número de enfermedades metabólicas pertenecen al grupo de enfermedades clasificadas como enfermedades raras. Las mutaciones en cada una de las tres enzimas encargadas del correcto metabolismo de la galactosa producen un tipo de enfermedad rara conocida como galactosemias, clasificadas como tipo I, II y III, según la enzima afectada. Dentro de las galactosemias, la deficiencia de galactosa-4-epimerasa (GALE) responsable de la galactosemia tipo III es la más rara, la de más difícil diagnóstico, con la aparición de signos clínicos más severos y no cuenta con un tratamiento definido. Las investigaciones sobre la galactosemia tipo III en células de mamíferos, levaduras, moscas y Caenorhabditis elegans que se están realizando pretenden comprender mejor los mecanismos de la enfermedad, buscar nuevos métodos diagnósticos y dianas para su tratamiento.

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