Niemann-Pick disease

October 21, 2023

Parents of children suffering from Niemann Pick disease, a rare genetic disorder that affects the body’s ability to metabolise cholesterol and other fats, have urged the Union government to notify the ailment under the National Policy for Rare Diseases.
This, they say, would enable eligible patients to receive financial support from the government and access Xenpozyme (olipudase alfa powder), an expensive enzyme replacement therapy used for treatment.
NPD is a lysosomal storage disease (LSD) caused by acid sphingomyelinase deficiency (ASMD).
- The disease refers to a group of inherited metabolic disorders in which abnormal amounts of lipids (fatty materials such as waxes, oils, and cholesterol) build up in the brain, spleen, liver, lungs, and bone marrow.
Symptoms include Enlarged liver and spleen, difficulty in coordinating movement, frequent respiratory infections, slurred speech among others.