Skip to Content

globoid cell leukodystrophy

 

Definition: a metabolic disorder of infancy or early childhood characterized by spasticity, seizures, and rapidly progressive cerebral degeneration, massive loss of myelin, severe astrocytic gliosis, and infiltration of the white matter with characteristic multinucleate globoid cells; metabolically there is gross deficiency of lysosomal cerebrosidase (galactosylceramide ß-galactosidase); autosomal recessive inheritance, caused by mutation in the gene encoding glycosylceramidase (GALC) on 14q.

Synonym(s): diffuse infantile familial sclerosis, galactosylceramide lipoidosis, Krabbe disease

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

Hide