Niemann-Pick disease type C (NPC2-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.
Symptoms are age dependent and include severe liver disease, development of severe neurological disease and respiratory distress and eventual failure.
This condition is caused by pathogenic (disease-causing) variants in the NPC2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.
Resources:
National Niemann-Pick Disease Foundation
National Organization for Rare Disorders (NORD)
Revised August 2022
