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Biomol > 29 > Flashcards

29 Flashcards

1
Q

Hiperglicinemia no cetósica

A

Error innato en la degradación de glicina y se acumula habitualmente en SNC

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2
Q

Hiperoxaluria primaria

A

Incapacidad de catabólicas glioxilato formado por la desanimación de glicina y se oxida hacia oxalacetato

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3
Q

Glicinuria

A

Defecto en la reabsorción tubular renal

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4
Q

Cistinosis

A

Depósitos de cristales de cistina en tejidos e insuficiencia renal

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5
Q

Enzima que divide a la Treonina

A

Treonina aldolasa

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6
Q

Hiperidroxiprolinemia

A

Defecto en la hidroxiprolina deshidrogenasa

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7
Q

Deficiencia en la glutamato y- semialdheido deshidrogenasa produce

A

Excreción de pirrolina-3 hidroxi 5 carboxilato

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8
Q

Aminoacido que forman acetil CoA

A

Tirosina, Lisina , Fenilalanina, Triptofano, metionina

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9
Q

Tirosinemia tipo 1

A

Defecto en fumarilacetoacetato hidrolasa

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10
Q

Tirosinemia tipo 2

A

Síndrome de Richner Hanhart, defecto en la Tirosina aminotransferasa

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11
Q

Tirosinemia neonatal

A

Defecto en p-hidroxilfenilpiruvato hidroxilasa

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12
Q

Alcaptonuria

A

Deficiencia de oxidasa homogentisato
La orina de oscurece al exponerse al aire.
En avanzados aparece artritis y ocronosis( pigmentación de tejido)

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13
Q

La Fenilalanina se convierte a

A

Tirosina

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14
Q

Porque surgen hiperfenilalaninemias

A

Por defectos en fenilalanina hidroxilasa

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15
Q

Hiperlisisnemia

A

Defecto en la enzima bi funcional aminoafipato-g- semialdheído sintasa

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16
Q

En el catabolismo de la Metionina que aminoacidos crea

A

Cisteina y Ornitina

17
Q

Aminoácidos de cadena ramificada

A

Valina, Isoleucina, Leucina

18
Q

Enfermedad urinaria del jarabe de arce

A

Defecto en el complejo a-cetoàcido descarboxilasa

19
Q

Acidemia isovalerica

A

Defecto en la acidemia isovaleril-CoA deshidrogenasa

20
Q

Deficiencia en cistarionina B sintasa

A

Homocistinuria

21
Q

Defecto en arginasa

A

Argininemia

22
Q

Defecto en Ornitina aminotransferasa

A

Ornitemia,atrofia girada

23
Q

Enzimas de el complejo a-cetoacido descarboxilasa

A

a-cetoscido descarboxilasa
Dihidrolipoil transacilasa

24
Q

La Arginina participa en

A

La síntesis de ácido nitrico

25
Q

Aminoacido que forman Succinil CoA

A

Metionina
Valina
Isoleucina

26
Q

Que enzima vuelve a la cistina hacia Cisteina

A

Cistina reductasa

Biomol (3 decks)

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