Lysosomal Storage Disorders (LSDs) are a group of rare genetic storage disorders, characterised by specific lysosomal enzyme deficiencies.
Some Lysosomal Storage Disorders can be treated using enzyme replacement therapies (ERTs).
There are licensed ERTs for six LSDs:
Below is a list of further information of the service featured on this page. If you require any further information please contact us.
Lysosomal storage disorders - Frequently
Asked Questions
National lysosomal storage disorder
standards
National designation and funding of
the service for patients with Lysosomal
Storage Disorders
Policy on the funding of enzyme replacement
therapy and substrate reduction therapy
Guidelines for Anderson-Fabry Disease
Guidelines for paediatric Gaucher's
Disease
Guidelines for Adult Gaucher's Disease
Guidelines for Infantile Pompe Disease
Guidelines for Infantile Pompe Disease
- App 1a
Guidelines for Infantile Pompe Disease
- App 1b
Guidelines for Infantile Pompe Disease
- App 2 & 3
Guidelines for Late Onset Pompe Disease
Guidelines for Mucopolysaccharidosis
Type VI
Guidelines for Mucopolysaccharidosis
Type I
Guidelines for Mucopolysaccharidosis
Type II
Guidelines for the investigation and
management of Mucopolysaccharidosis
type III
Guidelines for Niemann-Pick Disease
Type C
Service Specification and Standards
- Lysosomal Storage Disorders Service
- Adults
Service Specification and Standards
- Lysosomal Storage Disorders Service
- Paediatric
Guidelines for the resuscitation of
children with Mucopolysaccharidosis
disorders
