News: Researchers have compiled the first government-supported national biobank of a sub-section of rare diseases called Lysosomal Storage Disorders (LSDs).
About Lysosomal Storage Disorders (LSDs)
- About: They are rare genetic conditions that cause a buildup of toxic materials in your body’s cells.
- Cause: These genetic disorders are caused by a deficiency of specific enzymes that normally break down certain lipids (fats) or carbohydrates (sugars) inside lysosomes.
- When these enzymes are absent or insufficient, the targeted fats or sugars cannot be properly degraded and recycled.
- As a result, these substances accumulate within lysosomes, disrupt normal cellular function, and lead to progressive organ damage.
- More than 40 types of lysosomal storage diseases have been identified, and new types continue to be discovered.
- Common lysosomal storage diseases include: Gaucher disease, Fabry disease, Niemann-Pick disease, Hunter syndrome (MPS II), Pompe disease and Tay-Sachs disease.
- All LSDs except Hunter syndrome (MPS II) and Fabry disease are autosomal recessive disorders which means both parents must carry the abnormal gene that prevents the body from making an enzyme with normal activity.
- Symptoms: It can affect multiple organs and systems, including the bones and joints, central nervous system, eyes, heart, kidneys, lungs, spleen, liver, and skin.
- Diagnosis: Specialized lysosomal disease testing laboratories offer specific tests that can confirm or rule out an LSD.
- Treatment: Currently, there is no cure for most of the lysosomal storage diseases.
- Treatment options for certain types of LSD include bone marrow transplantation, enzyme replacement therapy (ERT), and substrate reduction therapy (SRT).
