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Enfermedad de Von Gierke - Symptom

Nombres alternativos

Glucogenosis tipo I

Síntomas:

  • Hambre constante y necesidad frecuente de alimentación
  • Tendencia a sangrados nasales y formación de hematomas
  • Fatiga
  • Irritabilidad
  • Mejillas hinchadas, extremidades y tórax delgados y un vientre protuberante

Pruebas y exámenes:

El médico llevará a cabo un examen físico.

Puede haber signos de:

Los niños con esta afección generalmente son diagnosticados antes del año de edad.

Los exámenes que se puede hacer abarcan:

Los exámenes revelan niveles de azúcar en la sangre bajos y niveles de lípidos, lactato y ácido úrico altos.

  • Reviewed last on: 5/16/2011
  • 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

Smit GPA, Rake JP, Akman HO, DiMauro S. The glycogen storage diseases and related disorders. In: Fernandes J, Saudubray JM, Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. New York, NY:Springer;2006:chap 6.

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