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Niemann-Pick Disease

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 (NP-A) and type B (NP-B), 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 (NP-C) 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 and families 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.

Niemann-Pick Disease

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Latest news

16.09.20

NPUK Annual Family Conference & Interactive Workshop 2020 - FULL PROGRAMME

We are pleased to share the full programme for this year's Annual Family Conference & Interactive Workshop on Niemann-Pick Diseases, which will be the very first digital Conference we have held. Despite this we are sure it will be an informative, supportive, and entertaining weekend for all of the friends and families within our community...

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