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Niemann-Pick disease

(NEE-muhn • pick • disease)

General Condition Information

Other Names

  • Niemann-Pick

Condition Type

Birth Prevalence

  • It is estimated that approximately 15 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Decreased acid sphingomyelinase (ASM) enzyme activity

What is niemann-pick disease

Niemann-Pick disease is a term used to describe a family of inherited (genetic) conditions that prevent the body from processing fatty substances normally. Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, occurs when the body cannot break down a compound called sphingomyelin properly. Niemann-Pick disease is named for the first two doctors to describe the condition.

An enzyme called acid sphingomyelinase (ASM) breaks down sphingomyelin. Sphingomyelin maintains the shape of cells, especially nerve cells, and also supports other important processes. Sphingomyelin gets broken down in lysosomes, which are the cell components that process nutrients.

Newborn screening can only identify ASMD (Niemann-Pick types A and B). Another related condition that newborn screening does not detect, Niemann-Pick type C, is described at MedlinePlus Genetics.

ASMD develops when the ASM enzyme is present at low levels or does not work correctly. This makes it harder for lysosomes to break down sphingomyelin.

The severity and type of ASMD depends on how well sphingomyelin breaks down. There are three main types of ASMD: infantile neurovisceral, chronic visceral, and chronic neurovisceral.

  • Infantile neurovisceral AMD (Niemann-Pick disease type A), is more severe and has an earlier onset than other types of ASMD.
  • Chronic visceral disease (Niemann-Pick disease type B) causes health problems in the bone marrow, liver, spleen, and lungs.
  • Chronic neurovisceral disease has the same symptoms as chronic visceral disease, but also shows signs and symptoms in the nervous system.

Without treatment, high levels of sphingomyelin can damage the brain, lungs, spleen, and liver. This damage leads to the signs and symptoms of the condition, which may be life-threatening.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. Treatment manages the health problems caused by this condition by reducing symptoms.

Treatments may include the following:

Children who receive early and ongoing treatment for ASMD may live longer and have better growth. There is not yet effective treatment for brain issues by ASMD in the infantile neurovisceral and chronic neurovisceral forms of the disease. It is important to talk to your health care provider about how to best care for your baby. Health care providers will develop a plan that is tailored to the needs of each child.

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