There are more than 50 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 in 1,500 to 7,000 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.
Genetic counselors are health professionals who are trained to help families understand genetic disorders such as MPS I disease. A genetic counselor can help you determine if you are a carrier of a gene defect that causes MPS I and can provide valuable information and support for family planning. To learn more, click here.