What are LSD’s?
Lysosomal storage disorders (LSDs) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage disorders result when a specific organelle in the body’s cells – the lysosome – malfunctions. All lysosomal storage disorders share a common pathogenesis: a genetic defect in a specific lysosomal enzyme, receptor target, activator protein, membrane protein, or transporter, leading to accumulation of substrates in cell lysosomes.
The UK LSD Patient Organisation Collaborative
Patient organisations representing those affected by Lysosomal Storage Disorders work together in the common interest of LSD patients and their families in the UK. The Group is made up of representatives from the
- Association for Glycogen Storage Disease,
- The Batten Disease Family Association,
- The Gauchers Association,
- The Society for Mucopolysaccharide Diseases (the MPS Society),
- The Niemann-Pick Disease Group (UK)
- Save Babies Through Screening Foundation UK.
- The Cure & Action for Tay-Sachs (CATS) Foundation
- Fabry International Network
The LSD UK Patient Organisation Secretariat
3 Bull Pitch
T: 01453 549231