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Deficiencia de Ornitina transcarbamilasa

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Deficiencia de Ornitina transcarbamilasa

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Ahora, para comprobar su nivel de comprensión del tema, proceda a responder las siguientes preguntas, ¿listo/a?

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About Yes or No
bioquímica
9 times made

Created by

Lucelis Calles
Lucelis Calles
Panama

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Deficiencia de Ornitina transcarbamilasaOnline version

Ahora, para comprobar su nivel de comprensión del tema, proceda a responder las siguientes preguntas, ¿listo/a?

by Lucelis Calles
1

La principal consecuencia de la deficiencia de OTC es la acumulación de glucosa en la sangre, lo que lleva a hipoglucemia.

2

Una característica bioquímica distintiva de la deficiencia de OTC es la acumulación de carbamoil fosfato, que se desvía a la síntesis de pirimidinas, causando aciduria orótica.

3

La deficiencia de ornitina transcarbamilasa (OTC) es un trastorno genético ligado al cromosoma X causado por una alteración en el gen OTC.

4

La deficiencia de OTC afecta con mayor severidad a los varones que a las mujeres debido a que las mujeres poseen dos cromosomas X, lo que les permite compensar el gen defectuoso.

5

El trasplante de hígado se considera una opción curativa para la deficiencia de OTC y revierte cualquier lesión neurológica preexistente.

 
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