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2014, Número 2

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Rev Cub Gen 2014; 8 (2)


Los Defectos Congénitos de la etapa I de la N-Glicosilación. Bases moleculares y manifestaciones clínicas

Acosta ST, Bermejo VAJ, Archer JJ

Idioma: Español
Referencias bibliográficas: 57
Paginas: 4-14
Archivo PDF: 446.92 Kb.


RESUMEN

Los defectos congénitos de la glicosilación son un grupo de rápida expansión que presentan una amplia sintomatología y variado grado de severidad. La causa molecular se relaciona con la deficiencia en el proceso de N-glicosilación. Este proceso tiene lugar tanto en el retículo endoplasmático como en el aparato de Golgi y ocurre mediante dos etapas. Hasta la fecha, se han descrito más de 30 tipos de trastornos genéticos de la N glicosilación. CDG-Ia es el más frecuente de todos. Los principales hallazgos clínicos resultan: el retraso psicomotor, ataxia, convulsiones, retinopatía, fibrosis hepática, coagulopatías, fallo de medro, rasgos dismórficos que incluyen las pezones invertidos y la distribución anómala de grasa subcutánea. Solo existe tratamiento efectivo demostrado para el CDG-Ib. Se realiza una actualización de los CDG que involucran afectación de la primera etapa de este proceso.


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