Lysosomal Disorders Unit

Patient Associations exist for many of the Lysosomal Storage Disorders. They are usually voluntary groups of people who can provide invaluable information, advocacy and support.

For the most recent up to date list of LSD patient organisations please visit the LSD collaborative website

  Disease Patient Support Group Telephone Email Website
Pompe Association of Glycogen Storage Disorders 0300 1232790

Batten Batten Disease Family Association 0800 0469832

Tay Sachs and Sandhoff Cure and Action for Tay Sachs Foundation

Gaucher Gaucher Association 01453 549231

Krabbe Krabbe Uk

Mucopolysaccharidoses (MPS), mucolipidoses (ML), metachromatic leukodystrophy (MLD), Fabry and related lysosomal disorders (including lysosomal acid lipase deficiency/LAL-D)  MPS Society 0345 3899901

Niemann-Pick Niemann-Pick UK 0191 4150693



Additional resources


Alex The leukodystrophy charity

Helpline 020 7701 4388

Registered charity number 1106008


Cambridge rare disease network

Registered Charity Number: 1166365


Contact  - for families with disabled children

Helpline 0808 808 3555

Registered charity number 284912


Genetic Alliance UK

Registered charity number 1114195 


Metabolic Support UK

Helpline  0845 241 2173

Registered charity number 1089588


Rare disease UK

Registered charity number 1114195 


SwanUK (syndromes without a name)

020 7831 0883

Registered charity number 05772999


Addenbrooke’s Charitable Trust  ACT

Tel: 01223 217757

Registered charity number 1170103



please link directly to PALS website

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