Most Common LSDs in India
Following are the most common types of Lysosomal Storage Disorders found in India. To know more about each of these disorders, click on any disease name below.
Gaucher disease is a rare genetic disorder caused by the deficiency of an enzyme wherein fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow, typically causing an enlarged abdomen.
The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs.
In individuals with MPS, a deficiency or malfunction of specific enzymes leads to an abnormal accumulation of certain complex carbohydrates in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.