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Crossword Puzzle

Errores Innatos del Metabolismo

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Errores Innatos del Metabolismo

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About this activity

Revisar cada enunciado y completa el espacio en el crucigrama, segun corresponda.

Created by

Claudia Nevarez Ibarra
Claudia Nevarez Ibarra
Mexico

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Errores Innatos del Metabolismo
 

Crossword Puzzle

Errores Innatos del MetabolismoOnline version

Revisar cada enunciado y completa el espacio en el crucigrama, segun corresponda.

by Claudia Nevarez Ibarra
1

Errores en el metabolismo de aminoácidos (ej. fenilcetonuria, tirosinemia).

2

galactosemia, intolerancia hereditaria a la fructosa, enfermedades de almacenamiento de glucógeno

3

Los transtornos de lípidos y acidos grasos son defectos de oxidación de ácidos grasos y:

4

defectos en el metabolismo de purinas y pirimidinas.

6

dieta baja en fenilalanina para evitar daño cerebral

7

Permitir diagnóstico temprano de EIM tratables, se hace entre las primeras 48 a 72 horas despues de nacer.

8

El tamiz identifica el fenotipo metabólico antes de que el genotipo defectuoso se exprese clínicamente; la confirmación genética se hace después con:

9

Son enfermedades donde se bloquea un paso de la ruta y se acumula el sustrato anterior (por ejemplo, fenilcetonuria → fenilalanina).

10

Enfermedad donde la vía no puede producir un compuesto esencial (hormonas, neurotransmisores..)

11

son trastornos genéticos (hereditarios) en los que una mutación en un gen altera una enzima, transportador o proteína reguladora de una ruta metabólica, impidiendo que el cuerpo transforme los nutrientes en energía de manera normal.

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11
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9
4
1

Son mecanismos fisiopatologicos y por el tipo de metabolito afectado.

2

una mutacion genomica, donde existe una copia extra de un cromosoma concreto.

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