Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush Medical College in Chicago, provides an overview of Niemann-Pick Type C (NPC).

NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time.

The underlying, principal abnormality is the cell’s inability to adequately move fatty molecules (e.g., cholesterol and lipids) out of the cell’s lysosomes, resulting in accumulations in the lysosomes and late endosomes. This leads to fatty substances building up in many organ systems throughout the body. This dysfunction has been associated with mutations in one of two genes (NPC1 or NPC2).

To learn more about Niemann-Pick disease,  visit our Niemann-Pick Disease Type C Learning Center.