Embarazo a término en una paciente diagnosticada en la infancia con galactosemia clásica

Úrsula Carrillo Estrada, Annie Sanabria Villar, Geleny Alonso Sánchez, Silvia Clariris Roche Caso, Nancy Dueñas Gobel, Ana Bárbara Moyano Pérez, Rosa María García Nieblas, Cecilia Margarita Castañeda García, Georgina María Zayas Torriente, Dainet Abreu Soto, Laritza Martínez Rey

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Resumen

La galactosemia es una enfermedad metabólica hereditaria (según un patrón autosómica recesiva) que es causada (en su forma clásica) por la ausencia (o la actividad defectuosa) de la enzima galactosa-1-fosfato-uridil-transferasa que cataliza la transformación de la galactosa en glucosa-1-fosfato para su utilización y consumo dentro de la ruta metabólica [RESUMEN TRUNCADO DESPUÉS DE LAS PRIMERAS 100 PALABRAS].

Referencias

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