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.
Maladie de Krabbe /
Leucodystrophie de Krabbe /
Leucodystrophie à cellules globoïdes de Krabbe /
Déficit en galactocérébrosidase /