The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess lipid materials build up to harmful levels in the central and peripheral nervous systems, particularly in nerve cells.
Gene Name | Chromosome number |
---|---|
GLB1 | 3 |
HEXB | 5 |
GM2A | 5 |
PSAP | 10 |