Nleucodistrofia de krabbe pdf

Please see our fact sheet on genetics for more information about what this type of genetic inheritance means. Krabbe disease also called globoid cell leukodystrophy is a severe neurological condition. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. No brasil, raros casos desta entidade sao relatados57. Krabbe disease newborn screening galactocerebrosidase lysosomal storage diseases bone marrow transplant hsct purpose. For that reason we report the case of an 11yearold child. Although there is no cure for krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Medlineplus en espanol tambien contiene enlaces a sitios web no gubernamentales. Krabbe disease is a genetic condition with recessive autosomal inheritance mechanism and very low incidence. Krabbe disease globoid cell leukodystrophy is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. Leucodistrofia celulas globoides enfermedad krabbe youtube. Galc is an enzyme that breaks down molecules called galactolipids, which are heavily present in the brain.