Errores innatos del metabolismo

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Errores innatos del metabolismo

Definición:

Los errores innatos del metabolismo o metabolopatía congénita corresponden a trastornos genéticos poco comunes en los cuales el cuerpo es incapaz de convertir los alimentos en energía de manera apropiada. Dichos trastornos generalmente son causados por defectos en proteínas específicas (enzimas) que ayudan a descomponer (metabolizar) partes del alimento.

Ver: pruebas de detección para recién nacidos

Nombres alternativos:

Enzimopatía congénita; Metabolopatía congénita

Galactosemia

Galactosemia

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