Niemann-Pick disease (Type C1)

Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body.

Niemann-Pick disease is divided into four main types: A, B, C1 and C2. Mutations in the NPC1 gene are responsible for type C1. Symptoms for this form usually appear in childhood and often include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone, lack of coordination, problems feeding, and inability to move the eyes vertically. Type A and B are caused by mutations in the SMPD1 gene and type C2 is caused by mutations in the NPC2 gene.