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Pediatria 🧸 > Galactosemia > Flashcards

Galactosemia Flashcards

1
Q

Herencia relacionado con galactosemia

A

Autosomica recesiva

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2
Q

Metabolismo alterado en galactosemia

A

Hidratos de carbono (galactosa)

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3
Q

Gen mutado en galactosemia

A

GALT

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4
Q

Síntomas después de la ingesta de leche

A

Convulsiones
Rechazo al alimento
Vómito
Diarrea
Hipotonia
Ictericia

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5
Q

Clasificación de galactosemia

A

Berry GT2014

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6
Q

Diagnóstico de galactosemia

A

Tamiz (galactosa > 10mg/dl)

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7
Q

Diagnóstico definitivo de galactosemia

A

Galactosa uridil transferasa GALT y galactosa 1 fosfato en plasma

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8
Q

Manifestaciones oculares en galactosemia

A

Catarata

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9
Q

Alimentación indicada en galactosemia

A

Lactancia contra indicada
Iniciar fórmula de soya
Dieta restringida en galactosa

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10
Q

Metabolitos acumulados en galactosemia

A

Galáctitol
Galactosa 1 fosfato

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11
Q

Frecuencia de galactosemia en México

A

1/59158

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12
Q

Frecuencia de galactosemia mundial

A

1:14000-80 000

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13
Q

Mutación en México

A

Q188R

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14
Q

Característica de las galactosemia más severas

A

Ausencia de actividad enzimatica

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15
Q

Causa de galactosemia primaria

A

Tipo 1 Galactosemia causada por deficiencia de galactosa 1 fosfato uridil transferasa GALT

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16
Q

Causas de galactosemia secundaria

A

Otras patologías

17
Q

Cómo se presentan las manifestación de la galactosemia

A

Intoxicación aguda inespecifica

18
Q

Qué hacer en caso de tamiz neonatal con GT >10 mg/dl

A

Segundo tamiz

19
Q

En caso de segundo tamiz GT>10 mg/dl

A

GT
GAL 1 P
GALT

20
Q

En qué momento debe iniciarse el tratamiento de galactosemia

A

Primeras semanas de vida

Pediatria 🧸 (30 decks)

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