Definición:
An autosomal recessive metabolic disorder caused by a deficiency of leading to intralysosomal accumulation of galactolipids such as and . It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of disrupts normal conduction of nerve impulses.
Sinónimos:
Enfermedad de Krabbe /
Esclerosis del Cuerpo Globoide Difuso /
Leucodistrofia de Celulas Globoides /
Enfermedad por Deficiencia de Galactosilceramidasa /