ERRORES METABOLISMO 2 Flashcards

1
Q

tto Morquio

A

VIMIZIM

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2
Q

MPS sin retraso mental

A

4 y 6
morquio y maroteaux-lamy

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3
Q

acumulación en morquio

A

KS Y CS

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4
Q

enzima de morquio

A

Tipo A- Galactosamina 6 sulfato sulfatasa
Tipo B- Beta - galactosidasa

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5
Q

MPS donde se acumula CS y KS

A

morkio

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6
Q

hipoplasia dontoide

A

morkio

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7
Q

unico MPS que es de herencia ligada al X AR

A

MPS 2 - Hunter

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8
Q

enzima de hunter

A

iduronato 2 sulfatasa

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9
Q

papulas hipocromicas del 2-10 mm son patognomonicas de

A

MPS 2 - hunter

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10
Q

opacidad corneal

A

enfermedad de hurler

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11
Q

aldurazyme

A

mps1 hurler

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12
Q

tto para mps1 hurler

A

aldurazyme

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13
Q

mala visión periferica y ceguera nocturna

A

mps2 hunter

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14
Q

V o F. aldurazyme alivia los sítomas de mps1

A

V pero los neurologicos no ya que no atraviesa BHE

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15
Q

Crecimiento por encima del promedio hasta los 5 años, luego disminuye

A

MPS 2 hunter

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16
Q

tto hunter

A

prevención de manifestaciones con elaprase trasplante de cells madres hematopoyéticas
tto de síntomas

17
Q

mps 3 (nombre)

A

san filipo

18
Q

mps 1 (nombre)

A

hurler

19
Q

mps 2 (nombre)

A

hunter

20
Q

mps 4 (nombre)

A

morquio

21
Q

mps 6 (nombre)

A

maroteaux - lamy

22
Q

enfermedad que SOLO acumula DS

A

maroteaux - lamy

23
Q

deformación de vertebras en pico de loro

A

maroteaux - lamy

24
Q

atrofia del nervio óptico

A

maroteaux - lamy

25
Q

tto maroteaux lamy

A

galsulfasa

26
Q

en el sx de morquio segun el tipo hay una afectación de enzima difernete, como son

A

Tipo A - Galactosamina 6 sulfato sulfatasa
Tipo B - Beta galactosidasa

27
Q

El sx de morquio tiene expectativa de vida de

A

30 años

28
Q

pectus carinatum

A

morquio

29
Q

hipoplasia odontoide

A

morquio

30
Q

KS y CS se acumulan en

A

morquio

31
Q

tto morquio

A

VIMIZIM

32
Q

mps con rasgos faciales menos toscos

A

san filipo - mps 3

33
Q

TEA

A

san filipo

34
Q

dx de san filipo

A

test de berry –> cuantifica [ ] HS