This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The diagnosis of this condition can be made by measuring serum hexosaminidase activity.

Prenatal diagnosis is possible, but because about 80% of cases mark the first appearance of the condition in families, it is much more valuable to identify at-risk couples before they have children.

The high frequency of heterozygotes in the Ashkenazi Jewish populations has been a stimulus to successful voluntary detection programmes.

Note that Niemann-Pick disease may also present with a cherry red spot on the macula in the retina.


Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page