29 de noviembre – Día de Concienciación sobre el Síndrome de Menkes

noviembre 29, 2025/en Sin categorizar

El 29 de noviembre se conmemora el Día de Concienciación sobre el Síndrome de Menkes, un trastorno hereditario del metabolismo del cobre causado por mutaciones en el gen ATP7A.
El organismo no puede absorber ni distribuir correctamente el cobre, un elemento esencial para el desarrollo neurológico y la función enzimática. Esto provoca neurodegeneración progresiva, hipotonía, convulsiones y características físicas distintivas como cabello rizado y frágil de tono claro.

A pesar de su extrema rareza, los avances en diagnóstico neonatal y terapia sustitutiva con cobre han mejorado las expectativas en algunos casos. Este día busca fomentar la investigación y apoyar a las familias que conviven con esta enfermedad devastadora.

Fuente: Orphanet

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