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23. Pediatría > Fenilcetonuria > Flashcards

Fenilcetonuria Flashcards

1
Q

Masculino de 10 meses, niega consanguiniedad, no logra sostén cefálico, seguimiento de la mirada y toma de objetos, extremidades con movimientos bruscos, mioclonías, fontanela normotensa, se realiza RM con lesiones en sustancia gris y blanca, Dx

A

Fenilcetonuria

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2
Q

Patrón de herencia de este gen

A

Autosomómico recesivo

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3
Q

Característica bioquímica de esta enfermedad

A

Deficiencia de fenilalanina hidroxilasa

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4
Q

Niveles que se debe de mantener la fenilalalina en todas las edades

A

120-360 micromoles

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5
Q

Restricción proteíca en fenilcetonuria

A

linolénico, linoléico, AA, DHA y ácido eicosapentaenoico

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6
Q

Lesiones de la sustancia gris y blanca

A

Ganglios basales, cerebelo y cuerpo calloso

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7
Q

Edad en que se debe iniciar el tx para evitar el retraso mental irreversible

A

Primeros 20 días

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8
Q

Alteraciones que se observa en RM

A

Lesiones en sustancia blanca y sustancia gris

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9
Q

Cromosoma cuya mutación da origen

A

12q22-24.1

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23. Pediatría (44 decks)

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