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Enfermedades Enzimaticas Flashcards

1
Q

Hurler

A

a-L-iduronudasa
D y H
AR

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2
Q

Sheie

A

a-L-iduronudasa
D y H
AR

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3
Q

Hunter

A

Iduronato sulfatasa
D y H
crX

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4
Q

San Filippo A

A

Sulfaminidasa
H
AR

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5
Q

San Filippo B

A

Nacetil glucosaminidasa
H
AR

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6
Q

San Filippo C

A

Acetiltransferasa
H
AR

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7
Q

San Filippo D

A

NAG6S sulfatasa
H
AR

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8
Q

Morquio A

A

Galactosamina 6 sulfatasa
Q
AR

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9
Q

Morquio B

A

Beta Galactosidasa
Q
AR

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10
Q

Marouteaux-Lamy

A

Arilsulfatasa B
D
AR

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11
Q

Sly

A

Beta glucuronidasa
D, H y C
AR

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12
Q

Hiperquilomicronemia

A

LPL, ApoC2
AR

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13
Q

Hipercolesterolemia

A

LDLR
AD

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14
Q

Hiperlipemia combinada

A

LDLR y VLDL
AD

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15
Q

Disbetalipoproteinemia

A

ApoE2
AR

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16
Q

Hipertrigliceridemia

A

VLDL
AD

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17
Q

Hiperlipemia mixta

A

Poligenetica

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18
Q

Hiperalfalipoproteinemia

A

Beneficio
AD

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19
Q

Abetalipoproteinemia

A

Baja ApoB (MTP)
AR

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20
Q

Bassen-Kornzweig

A

Baja ApoB (MTP)
AR

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21
Q

Analfalipoproteinemia

A

Baja HDL (tptador ABC)
AR

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22
Q

Tangier

A

Baja HDL (tptador ABC)
AR

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23
Q

Landing

A

GM1-beta-galactosidasa
AR

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24
Q

Tay Sachs

A

N-acetilhexosaminidasa A
AR

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25
Sandhoff
N-acetilhexosaminidasa A y B AR
26
Schlotz/Greenfield/leucodistrofia metacromatica
Arilsulfatasa A AR
27
Fabry
alfa-galactosidasa crX
28
Farber/lipogranulomatosis
Ceramidasa AR
29
Gaucher
beta-glucosidasa, glucosilceramidasa o glucocerebrosidasa AR
30
Niemann Pick
Esfingomielinasa AR
31
Krabbe/leucodistrofia de celulas globoides
beta-galactosidasa o galactosilceramidasa o galactocerebrosidasa AR
32
Cistinuria
Transporte aa dibasicos AR cristales cistina
33
Inimoglicinuria
Benigna Gly Pro y OHPro
34
Hartnup
Tpte aa neutros Tipo pelagra, pañal azul, indican
35
Fenilcetonuria
Phe hidroxilasa AR cr12 Dx: prueba de Gurthie
36
Fenilcetonuria maligna
Déficit tetrahidrobiopterina
37
Tirosinemia I
fumarilacetoacetasa o fumarilacetoacetato hidrolasa AR cr15
38
Richer Hanhart
Tyr aminotransferasa AR cr16
39
Tirosinemia III
P-hidroxifenilpiruvato dioxigenasa AR cr 12
40
Alcaptonuria
Homogenistico 1,2 dioxigenasa AR cr3
41
Albinismo
Tirosinasa AR
42
Homocistinuria
B-cistationina sintasa AR Tipo maarfan por falta PdS
43
Hiperlisinemia
AR
44
Jarabe arce
Complejo alfa-cetoacido cadena larga DH AR
45
Acidemia metilmalonica
MetilmalonilCoA mutasa (o déficit de B12, que eleva tambien homoCys) AR
46
Acidemia propionica
Propionil CoA carboxilasa AR
47
Acidemia isovalerica
IsovalerilCoA DH AR
48
Hipoglucemia hipocetosica
Fallos beta ox (MCAD o LCAD) AR
49
Hiperglicinemia no cetosica
Complejo degradado de Gly
50
Histidinemia
Benigna Histidasa
51
Hiperamonemias
Alteraciones ciclo de la urea AR salvo déficit Orn transcarbamilasa (X)
52
Hiperuricemia
Catabolismo purinas aumentado o problema riñon Sindrome de lisis tumoral
53
Gota
Exceso purinas Tto inhibir xantina oxidasa
54
Lesch-nyhan
HGPRT CrX Aumenta PRPP y la síntesis de purinas, y al final tambien su degradación
55
Xantinuria hereditaria
Xantina oxidasa AR Benigna, litiasis por xantina en orina
56
SCID AR
déficit ADA
57
Aciduria orótica
UMP sintasa AR da anemia megaloblástica
58
Von gierke
G6 fosfatasa AR
59
Von gierke
G6 fosfatasa
60
Pompe
Alfa glucosidasa o maltasa ácida AR
61
Cori Forbes
Desramificante AR
62
Andersen
Ramificante AR
63
Mc Ardle
Glno fosforilasa muscular AR
64
Hers
Glucogeno fosforilasa hepática AR
65
Tarui
PFK1 AR
66
Glucogenosis 9
Fosforilasa quinasa cr X R
67
Fanconi-Bickel
GLUT2 AR
68
Glucogenosis 0
Glucogeno sintasa
69
Aciduria orótica con Hiperamonemia
CrX Ornitina transcarbamilasa

Bioq (4 decks)

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