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Annual Family Conference 2023
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National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.
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NTSAD - Which enzyme is deficient in each lysosomal storage disorder?
- Details
- Category: All about Lysosomal Storage Disorders
|
Disease Name |
Enzyme affected |
Gene containing mutation |
Substrate that accumulates |
|
Tay Sachs |
Beta- hexosaminidase A |
HEXA |
GM2 Ganglioside |
|
Sandhoff |
Beta-Hexosaminidase A & Beta-Hexosaminidase B |
HEXB |
GM2 Ganglioside |
|
GM-1 |
Beta-galactosidase |
GLB1 |
GM1 Ganglioside |
|
Fabry |
Alpha-galactosidase A |
GLA |
Globotriaoslyceramide |
|
Gaucher |
Beta-glucocerebrosidase |
GBA |
Glucocerebroside |
|
Niemann-Pick Types A & B |
Acid-sphingomyelinase |
SMPD1 |
Spingomyelin |
|
Niemann-Pick Type C* |
|
NPC1 or NPC2 |
|
|
Pompe** |
Acid alpha-glucosidase (acid maltase) |
GAA |
Glycogen
|
*Mutations in the NPC1 or NPC2 genes cause a problem with the transport of lipids (fatty substances) in the cell. These lipids then build up in the cells, which causes cell dysfunction. There is further cell dysfunction because the lipids are not taken to the location where they are needed in the cell.
**Pompe is also a glycogen storage disorder.