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.

While individually most of these diseases are rare, as a group their incidence is about 1 in 7,700 live births--higher than many physicians may realize. [1]

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

LSDs require a multidisciplinary approach to care, including disease-specific treatment options available for some LSDs and medical management.

	Presentation and Progression Learn about major LSD “red flag” clusters of signs and symptoms, severity, and outcomes.				Disease Management Find out more about disease-specific treatment options, the medical management of LSDs, and investigational approaches currently under study.

The Support Center offers information, services, and programs to assist those dealing with LSDs. Visit the Support Center

1. Meikle, PJ, et al. Prevalence of Lysosomal Storage Disorders. JAMA; 281: 249-254