Trastorno del ciclo de la urea Report
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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How will my data be used?
Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.
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You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you.
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*Raw data will be available free of charge for the first 30 days after release.
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