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Bioquímica > Presentaciones > Flashcards

Presentaciones Flashcards

1
Q

Porfirina: ALA sintasa

A

Anemia sideroblástica

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2
Q

Porfirias: ALA deshidratasa

A

Deficiencia de ALA deshidratasa
Dolor abdominal, síntomas neuropsiquiátricos

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3
Q

Porfirias: Uroprofirinógeno I sintasa (hidroximetano sintasa)

A

Porfiria intermitente aguda
Dolor abdominal, síntomas neuropsiquiátricos

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4
Q

Porfirias: Uroprofirinógeno III sintasa

A

Eritropoyética congénita
Sensibilidad

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5
Q

Porfirias: uroporfirinógeno descarboxilasa

A

Porfiria cutánea tarda
Fotosensibilidad

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6
Q

Porfirias: coproporfirinógeno oxidasa

A

Coproporfirina hereditaria
Gotosensibilidad, solor abdominal, síntomas neuropsiquiátricos

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7
Q

Porfirias: protorfirinógeno oxidasa

A

Porfiria variegata
Fotosensibilidad, dolor abdominal, síntomas neuropisquiátricos

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8
Q

Porfirias: ferroquelatasa

A

Protoprofiria
Fotosensibilidad

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9
Q

Fenilcetonuria (PKU)

A

Inhibición de fenilalanina hidroxilasa
Cofactor: tetrahidrobiopterina

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10
Q

Albinismo

A

Inhibición de tirosinasa
OCA: oculocutáneo
OA1: solo en ojos

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11
Q

Alcaptonuria

A

Inhibición de ácido homogentísico oxidasa
Deficiencia de oxidasa homogenistato

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12
Q

Histidinemia

A

Inhibición de conversión de histidina a ácido urocánica por la histidasa

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13
Q

Homocistinuria

A

Deficiencia de MTHFR, MS, CBS, MTS

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14
Q

Enfermedad de la orina en jarabe de arce

A

Cetonuria de cadena ramificada
Implica el complejo alfa cetoácido de cadena ramificada deshidrogenasa

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Bioquímica (10 decks)

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