Enfermedades Flashcards

(30 cards)

1
Q

4-fumarilacetoacetato

A

Tirosinemia tipo I

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2
Q

Enzima Fenilcetonuria

A

Fenilanina hidroxilasa

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3
Q

Fenilalanina hidroxilasa

A

Fenilcetonuria

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4
Q

Enzima Alcaptonuria

A

Homogentísico 1,2-dioxigenasa

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5
Q

Homogentísico 1,2-dioxigenasa

A

Alcaptonuria

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6
Q

Metabolito no transformado en la fenilcetonuria

A

Fenilanina

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7
Q

Metabolito no transformado en alcaptonuria

A

Ácido homogentísico

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8
Q

Enzima tirosinemia de tipo I

A

Fumarilacetoacetato hidrolasa

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9
Q

Fumarilacetoacetato hidrolasa

A

Tirosinemia de tipo I

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10
Q

Metabolito no transformado en tirosinemia de tipo I

A

4-fumarilacetoacetato

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11
Q

Enzima tirosinemia de tipo II

A

Tirosina aminotransferasa

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12
Q

Tirosina aminotransferasa

A

Tirosinemia de tipo II

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13
Q

Metabolito no transformado en tirosinemia de tipo II

A

Tirosina

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14
Q

Enzima tirosinemia de tipo III

A

p-hidroxifenilpiruvato dioxigenasa

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15
Q

p-hidroxifenilpiruvato dioxigenasa

A

Tirosinemia de tipo III

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16
Q

Metabolito no transformado en tirosinemia de tipo III

A

p-hidroxifenil-piruvato

17
Q

Producto de la fenilalanina hidroxilasa

18
Q

Producto de la tirosina aminotransferasa

A

p-hidroxi-fenilpiruvato

19
Q

Producto del adenosina desaminasa

A

Inosina y de desoxiinosina

20
Q

Producto de hipoxantina-guanina-fosforribisil-transferasa

21
Q

Producto de OMP descarboxilasa

22
Q

Producto de ALA

A

Porfobilinógeno

23
Q

Producto de ferroquelatasa

24
Q

Producto de porfobilinógeno desaminasa

A

Hidroximetilbilano

25
Producto de homogentísico oxidasa 
Maleilacetoacetato
26
Producto de fumarilacetoacetato hidrolasa
Fumarato y acetoacetato
27
Enzima inmunodeficiencia combinada grave
Adenosina desaminasa
28
Metabolito no formado en la Inmunodeficiencia combinada grave
Desoxiadenosina, adenosina
29
Enzima síndrome de Lesch-Nyham
Hipoxantina-guanina-fosforribosil-transferasa
30
Metabolito no transformado en síndrome de Lesch-Nyhan
AMP, IMP