Niemann-pick Disease
Niemann-Pick Disease is a rare genetic disorder caused by a mutation in the gene responsible for the metabolism of cholesterol and other lipids. It is characterised by an accumulation of lipids, including cholesterol, in the brain, liver, spleen and lungs. Symptoms of the disorder range from problems with speech and movement to organ enlargement and failure, and in some cases, death. Treatment options are limited and the disorder is currently incurable, however, recent advances in gene therapy have opened up possibilities for the development of potential treatments for Niemann-Pick Disease. Furthermore, new research into the metabolic mechanisms of Niemann-Pick Disease is actively being carried out, providing hope for patients and their families with this rare, devastating disease.
← International Journal of Lipids