• Urea cycle disorder Report - Dante Labs World
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This report does not include the Genome Sequencing test (to be purchased separately)

Trastorno del ciclo de la urea Report

Trastorno del ciclo de la urea Report

€29.00 EUR
€29.00 EUR
Oferta Agotado

✔️ Add-on Report to your Genome Test

Los trastornos del ciclo de la urea son errores congénitos del metabolismo que resultan de defectos en una de las enzimas o moléculas transportadoras que participan en la eliminación hepática del amoníaco del torrente sanguíneo. La eliminación del amoníaco del torrente sanguíneo se produce normalmente a través de su conversión en urea, que luego es excretada por los riñones. En consecuencia, los trastornos del ciclo de la urea conducen a una acumulación de amoníaco. El amoníaco es extremadamente tóxico, especialmente para el sistema nervioso central. Los recién nacidos con mutaciones graves en cualquiera de las cuatro primeras enzimas del ciclo de la urea pueden enfermar de forma catastrófica a las 36 o 48 horas de nacer, a pesar de parecer normales al nacer. Por lo tanto, es posible que un recién nacido sea dado de alta del hospital antes de que se desarrollen signos de trastornos del ciclo de la urea.

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