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Genetica > Galactosemia > Flashcards

Galactosemia Flashcards

1
Q

3 genes alterados en esta enfermedad

A
  • GALT
  • GALK
  • GALE
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2
Q

¿Cuál es el sustrato de la enzima galactosa unidil 1 fosfato?

A

Galactosa-1-fosfato

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3
Q

¿Qué hallazgo clínico hay a nivel hepático en estos Px?

A

Hepatomegalia

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4
Q

¿Qué productos alimenticios deben estar restringidos en estos Px?

A

Lácteos y proteínas

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5
Q

2 ejemplos de fórmulas lácteas

A
  • alsoy

* isomil

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6
Q

3 sitios de acumulación de galactosa en el organismo

A
  • cerebro
  • higado
  • riñones
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Genetica (35 decks)

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