Lysosomal storage disorders are a group of genetic conditions caused by a biological enzyme deficiency. These conditions are often life-limiting, always multi-systemic and are usually progressive. The service provides multi-disciplinary care and treatment for patients and families affected by these conditions.
Lysosomal storage disorders are a group of rare inherited diseases caused by single gene defects and there are currently thought to be at least 70 different disorders. The symptoms experienced by patients are variable and can affect many different parts of the body. The service provides diagnosis, treatment and ongoing assessment for these disorders including Gaucher, Fabry and Pompe disease as well as the mucopolysaccharisdoses, Niemann-Pick disease and lysosomal acid lipase deficiency (LAL-D). The department can provide access to clinical trials and supportive therapies for any diseases without current treatments.
Whilst this website is temporarily under development please visit the patient support group websites for specific information about lysosomal storage disorders