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una enfermedad neurometabólica genética poco frecuente caracterizada por crisis neonatales tempranas refractarias, hipotonía e insuficiencia respiratoria. Las imágenes cerebrales revelan un patrón simplificado de las circunvoluciones de los lóbulos frontales, anomalías de la sustancia blanca, gliosis y pérdida de volumen en diversas regiones del cerebro y edema vasogénico. Los niveles de glutamina sérica están significativamente elevados. 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