Lysosomal Storage Disorders

There are more than 40 diseases classified as lysosomal storage disorders (LSDs), each resulting from an inherited genetic defect that causes an enzymatic deficiency or malfunction, resulting in accumulation of substrate in cell lysosomes. In addition to MPS I disease, other LSDs include Gaucher disease, Tay-Sachs disease, Pompe disease and Fabry disease.

While individually most of these diseases are rare, as a group their incidence is about 1: 7,700 live births-which makes this a disease category that doctors are likely to see in their practice.

Most LSDs can present across a continuum of clinical severity. They are all progressive in nature and may cause multi-systemic, damage that can be seriously debilitating and even life-threatening in severe phenotypes.

LSDs require a multidisciplinary approach to care. Early identification and diagnosis of LSDs facilitate earlier disease management.