Lysosomal Storage Disorders
There are more than 40 diseases classified as lysosomal storage disorders (LSDs), each resulting from an inherited monogenetic defect that causes a specific enzymatic deficiency or malfunction, resulting in accumulation of some substrate in cell lysosomes. In addition to Gaucher disease, other LSDs include Tay-Sachs disease, Mucopolysaccharidoses, and Fabry disease.
While individually most of these diseases are rare, as a group their incidence is about 1 in 7,700 live births[1] -higher than many physicians may realize.
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. Thus early identification, diagnosis, and optimal intervention are essential.
LSDs require a multidisciplinary approach to care, including disease-specific treatment options available for some LSDs and general medical management.
For more information on lysosomal storage disorders, visit www.lysosomallearning.com/.
References:
1. Meikle, PJ, et al. Prevalence of Lysosomal Storage Disorders. JAMA; 1999: 281: 249-254.
Gaucher Cells
Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.
Gaucher Registry
For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »