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Anomalía hereditaria del ciclo de la urea - Symptom

Nombres alternativos

Anomalía del ciclo de la urea hereditaria; Anomalía del ciclo de la urea de tipo hereditario

Síntomas:

Típicamente, el bebé comienza a alimentarse bien y parece normal; sin embargo, con el tiempo, el bebé comienza a presentar alimentación deficiente, vómitos y somnolencia, la cual puede llegar a ser tan profunda que es difícil despertarlo. Esto generalmente ocurre dentro de la primera semana después del nacimiento.

Los síntomas abarcan:

  • Confusión
  • Disminución en la ingesta de alimento
  • Mostrar desagrado por los alimentos que contienen proteína
  • Aumento de la somnolencia, dificultad para despertarse
  • Náuseas, vómitos

Signos y exámenes:

El médico a menudo diagnostica estos trastornos cuando el niño aún es un bebé.

Los signos abarcan:

  • Aminoácidos anormales en sangre y orina
  • Nivel anormal de ácido orótico en sangre y orina
  • Nivel de amoníaco en la sangre elevado
  • Nivel normal de ácido en la sangre

Los exámenes pueden abarcar:

  • Reviewed last on: 1/21/2010
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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