Niemann-pick types a/b

Overview

What is Niemann-Pick disease (SMPD1-associated)?

Niemann-Pick disease (SMPD1-associated) is a genetic condition that affects many of the organs in the body. It is caused by a buildup of a fat called sphingomyelin inside the cells in the body, which causes damage to the body's organs. Niemann-Pick disease (SMPD1-associated) is divided into 2 types: type A and Type B. Both type A and Type B are caused by changes/mutations in the SMPD1 gene, but they are different because they have different severity symptoms. The main symptoms of this condition include enlargement of the liver and spleen, lung problems, and decreases in intellectual abilities. Type A disease is more common in people with Ashkenazi Jewish ancestry.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me