Niemann-Pick disease (Type C2)

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

Signs and Symptoms
Niemann-Pick disease is divided into four main types: A, B, C1 and C2. Mutations in the NPC2 gene are responsible for type C2. 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 C1 is caused by mutations in the NPC1 gene.


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