Niemann-Pick disease

Sphingomyelinase deficiency

Niemann-Pick disease is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.

There are 4 most commonly recognized forms of the disease:

  • Type A
  • Type B
  • Type C
  • Type D

Types A and B are also known as type I, and types C and D are also known as type II.

Each type involves different organs. It may or may not involve the nervous system and breathing. Each one can cause different symptoms and may occur at different times throughout life.

Niemann-Pick foamy cells

Neimann-Pick is a disease in which excess material is stored inside cells (metabolic storage disease). These cells are referred to as "foam cells" because of their foamy or soap-suds appearance.



Exams and Tests


Support Groups

Outlook (Prognosis)

Possible Complications

When to Contact a Medical Professional