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Síndrome de Menkes - Overview

Nombres alternativos

Enfermedad del cabello ensortijado; Síndrome del cabello ensortijado de Menkes; Síndrome del cabello acerado

Definición:

Es una metabolopatía congénita en la cual las células del cuerpo no pueden absorber suficiente cobre.

Causas:

El síndrome de Menkes es causado por un defecto el gen ATP7A. El defecto le dificulta al cuerpo la distribución y absorción apropiada del cobre. Como resultado, el cerebro y otras partes del cuerpo no obtienen suficiente cantidad de este elemento.

Los niveles bajos de cobre pueden afectar la estructura del hueso, la piel, el cabello y los vasos sanguíneos e interfieren con la función nerviosa. El cobre también se acumula en el intestino delgado y los riñones.

El síndrome de Menkes es hereditario, lo cual significa que se transmite de padres a hijos.

Hipotonia

Reviewed last on: 5/15/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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