Niemann-Pick diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults:
Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NPA) and type B (NPB), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body. Niemann-Pick Disease Type C (NPC) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.
At NPUK we are dedicated to supporting the individuals, families and friends affected by these conditions. We offer practical and emotional support, provide information and strive to raise further awareness of the disease(s) in the hope of facilitating research and potential therapies.