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Intolerancia hereditaria a la fructosa - Symptom

Nombres alternativos

Fructosemia; Deficiencia de fructosa aldolasa B; Intolerancia a la fructosa; Deficiencia de Fructosa 1,6 bifosfato aldolasa

Síntomas:

Los síntomas se pueden observar después de que un bebé comienza a comer alimentos sólidos o leche maternizada.

Los primeros síntomas de la intolerancia a la fructosa son similares a los de la galactosemia, mientras que los síntomas posteriores se relacionan más con la enfermedad hepática.

Los síntomas pueden abarcar:

  • Convulsiones
  • Sueño excesivo
  • Irritabilidad
  • Ictericia neonatal que aumenta o se prolonga
  • Alimentación deficiente en la lactancia
  • Problemas después de comer frutas y alimentos que contengan fructosa/sacarosa
  • Vómitos

Pruebas y exámenes:

El examen físico también puede mostrar:

Dentro de los exámenes que confirman el diagnóstico se encuentran:

El azúcar en la sangre estará bajo, especialmente después de recibir fructosa o sacarosa. Los niveles de ácido úrico estarán altos.

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Steinmann B, Santer R, van den Berghe G. Disorders of Fructose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases. 4th ed. New York, NY:Springer;2006:chap 9.

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