Although the National Policy for Rare Diseases (NPRD) was introduced in 2021 and a nationwide scheme for financial aid is in place, more than 300 patients—most of them children—suffering from Lysosomal Storage Disorders (LSDs) still lack access to essential medical treatment.
What are Lysosomal Storage Disorders?
Lysosomal Storage Disorders are a group of rare, inherited genetic conditions in which harmful substances accumulate within the body’s cells due to enzyme deficiencies. Examples include Gaucher disease, Pompe disease, Fabry disease, MPS I and II, mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses.
These disorders are primarily the result of mutations in genes responsible for producing lysosomal enzymes. Lysosomes, which are small organelles enclosed by membranes, contain enzymes that help break down and recycle cellular waste and worn-out cell components.
In individuals with LSDs, either these enzymes are absent or non-functional, or the molecules that support enzyme function (activators or modifiers) are missing. This disrupts the breakdown of complex molecules like fats and sugars, leading to their accumulation, which can damage organs and lead to significant health complications and even death.
With the exception of Hunter syndrome (MPS II) and Fabry disease, most LSDs follow an autosomal recessive inheritance pattern, meaning both parents must pass on a faulty gene for the condition to manifest.
These conditions often emerge during pregnancy or shortly after birth, though in some cases, symptoms may not appear until adulthood. Typically, earlier onset correlates with more severe disease progression.
Treatment Options
Currently, there is no cure for LSDs. However, available therapies can help manage symptoms and reduce organ and tissue damage, improving quality of life for patients.