Niemann-Pick disease

NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick

Niemann-Pick disease (NPD) 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 three common forms of the disease:

  • Type A
  • Type B
  • Type C

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.

Autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. For a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is: a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease), a 25% chance that the child is born with two normal genes (normal), and a 25% chance that the child is born with two abnormal genes (at risk for the disease). Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.



Exams and Tests


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Outlook (Prognosis)

When to Contact a Medical Professional