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Galactosemia - Symptom

Nombres alternativos

Deficiencia de galactosa-1-fosfatouridil transferasa; Deficiencia de galactocinasa; Deficiencia de galactosa-6-fosfato epimerasa

Síntomas:

Los bebés con galactosemia pueden desarrollar síntomas en los primeros días de vida si consumen leche artificial o leche materna que contengan lactosa. Los síntomas pueden deberse a una infección grave en la sangre con la bacteria E. coli.

  • Convulsiones
  • Irritabilidad
  • Letargo
  • Alimentación deficiente (el bebé se niega a tomar fórmula que contenga leche)
  • Poco aumento de peso
  • Coloración amarillenta de la piel y de la esclerótica (ictericia)
  • Vómitos

Pruebas y exámenes:

Las pruebas de detección en recién nacidos en muchos estados evalúan esta afección.

Los exámenes incluyen:

  • Reviewed last on: 4/15/2009
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (3/13/2006). Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 7.

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