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Enfermedad de Krabbe - Overview

Nombres alternativos

Leucodistrofia de las células globoides; Deficiencia de galactosilcerebrosidasa; Deficiencia de galactosilceramidasa

Definición:

Es un raro trastorno genético del sistema nervioso, un tipo de leucodistrofia.

Causas:

Un defecto en el gen GALC causa la enfermedad de Krabbe. Las personas con este gen no producen suficiente cantidad de una sustancia llamada galactocerebrósido beta-galactosidasa (galactosilceramidasa).

El cuerpo necesita esta sustancia para producir la mielina, el material que rodea y protege las fibras nerviosas. Sin esta sustancia, la mielina se descompone, las neuronas mueren y los nervios en el cerebro y otras áreas del cuerpo no trabajan adecuadamente.

Hay dos formas de enfermedad de Krabbe.

  • La enfermedad de Krabbe de aparición temprana se presenta en los primeros meses de vida. La mayoría de los niños con esta forma de la enfermedad muere antes de cumplir los dos años de edad.
  • La enfermedad de Krabbe de aparición tardía empieza a finales de la niñez o a comienzos de la adolescencia.

La enfermedad de Krabbe es hereditaria, lo que significa que se transmite de padres a hijos. Para adquirir esta enfermedad, cada uno de sus padres debe pasarle una copia del gen GALC defectuoso. (Ver: patrón autosómico recesivo)

Esta afección es muy rara y es más común entre las personas de origen escandinavo.

  • 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

Vanier M. Disorders of sphingolipid metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY:Springer; 2006:chap 38.

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