Sphingomyelinase

Also known as: Lysosomal Enzyme for Niemann-Pick Disease.

What is sphingomyelinase?

Niemann-Pick disease is a disorder that affects the body’s ability to breakdown lipids. It results from a deficiency of the lysosomal enzyme known as sphingomyelinase. A sphingomyelinase test is a blood test that checks for a deficiency of the enzyme.

What happens during the procedure?

A routine blood draw is required in order to begin the sphingomyelinase test. The blood sample is then taken to a laboratory for testing and analysis.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw.

Reviewed by: Sajel L Kana, MD

This page was last updated on: September 16, 2025 12:48 PM