Errores Innatos del Metabolismo

Quiz
•
Professional Development
•
1st - 3rd Grade
•
Hard
Valeria Carrillo
Used 8+ times
FREE Resource
10 questions
Show all answers
1.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
¿Qué metabolitos se ven aumentados en la deficiencia de GALT?
Galactosa y galactitol
Glucosa 1 fosfato y galactitol
Galactitol
Glucosa 1 fosfatos, galactosa y galactitol
2.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
¿En qué sitio del cromosoma se encuentra la mutación del Gen CYP21A2? (responsable de la hiperplasia suprarrenal congénita)
6p12.3
6p21.7
3q21.6
6p21.3
3.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
Las manifestaciones clínicas de la PKU se deben a:
La producción de ácido fenilpirevico
La presencia de ácido fenilacetato en plasma
El aumento de las vías metabólicas alternas de la phe
El daño neurológico y retraso mental grave
4.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
El Deficit de glucosa 6 fosfato esta ligado al cromosoma X en el sitio
Xq82
Xp28
Xq28
Xp82
5.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
La PKU se debe a la deficiencia de la enzima:
PAH
HB2
HB4
DHBR
6.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
Es el grupo I de la clasificación de las enfermedades metabólicas:
Tipo déficit energético
Tipo Intoxicación
Tipo que altera el metabolismo de moléculas complejas
Enfermedades metabólicas de hidratos de carbono
7.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
Las manifestaciones clínicas TIPÍCAS de Hiperplasia suprarrenal congénita se manifiestan en etapa.
Lactante Menor
Embrionaria
Fetal
Lactante Mayor
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