Summary

An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait