• Niemann-Pick Disease


    Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In those with this rare disorder, fatty material builds up in various vital organs, which can include the brain.
    There are 4 main types of Niemann-Pick disease:
    • Type A—Causes fatty substances to collect in the liver and spleen. Children have severe brain damage and usually die by 2-3 years of age.
    • Type B—Affects the liver and spleen. Organs enlarge during the pre-teen years. There is usually no brain damage. Children usually have breathing problems and die in their teen years or early adulthood. The prognosis is better for type B than type A.
    • Type C—Produces extensive brain damage. The liver and spleen are moderately enlarged. Type C usually starts in childhood and leads to death in teen years or early adulthood.
    • Type D—Similar to type C, but occurs only in people related to a family that lived in Nova Scotia at the start of the 1700s. Type D is now recognized as a variation of type C.
    Liver and Spleen
    Child intestines
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    Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.

    Types A and B

    A fatty material called sphingomyelin builds up in the organs. This substance is normally present in the membrane of most cells. The enzyme sphingomyelinase normally breaks down this substance. However, people with type A or B either do not have enough of this enzyme or this enzyme does not work properly. Without the properly functioning enzyme, this fatty material builds up in the cells. The cells die and the organ does not work properly.

    Types C and D

    In these two types, nerve cells in the brain are unable to move cholesterol out. This allows cholesterol to build up, which keeps cells from functioning normally.

    Risk Factors

    Factors that may increase your child's chance of Niemann-Pick disease include:
    • Family members with Niemann-Pick disease
    • Ashkenazi Jewish heritage—types A and B
    • Nova Scotia, French-Canadian ancestry—type D
    • Spanish-American population of southern New Mexico and Colorado—type C
    • North African ancestry, Maghreb region including Tunisia, Morocco, and Algeria—type B


    Symptoms of Niemann-Pick disease may develop during infancy, childhood, or the teen years, depending on the type of the disease. Symptoms vary. Not all children will develop every symptom. Symptoms usually worsen over time.

    Type A

    Symptoms begin within the first few months of life. They may include:
    • Yellow skin and eye coloration
    • Cherry red spot in the eye
    • Enlarged belly
    • Intellectual disability
    • Loss of motor skills
    • Difficulty swallowing and feeding
    • Seizures
    • Visual problems
    • Spastic movements—later in disease
    • Rigid muscles—later in disease

    Type B

    Symptoms start during pre-teen years. They may include:
    • Yellow skin and eye coloration
    • Enlarged belly
    • Enlarged lymph nodes
    • Brittle bones
    • Breathing difficulties
    • Frequent respiratory infections

    Types C and D

    Symptoms may start in infancy, childhood, or teen years. They may include:
    • Yellow skin and eye coloration
    • Unsteady movement
    • Trouble walking
    • Difficulty swallowing
    • Unable to look up or down
    • Vision loss
    • Hearing loss
    • Slurred speech
    • Enlarged abdomen
    • Loss of motor skills
    • Difficulty swallowing
    • Learning problems
    • Tremors
    • Seizures


    The doctor will ask about the child’s symptoms and medical history. A physical exam will be done.
    Your child's bodily fluids and tissues may be tested. This can be done with:


    No specific or effective treatment currently exists for Niemann-Pick disease. Treatment is aimed at managing symptoms. For example, those with type B may be given oxygen to help with lung problems.


    There are no specific guidelines for preventing Niemann-Pick disease. Prevention measures are currently available in the areas of genetic testing and prenatal diagnosis. If you have Niemann-Pick disease or a have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.


    National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov

    National Niemann-Pick Disease Foundation, Inc. http://www.nnpdf.org


    Health Canada http://www.hc-sc.gc.ca

    National Niemann-Pick Disease FoundationCanadian Chapter http://www.nnpdf.ca


    Niemann-Pick disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated January 2008. Accessed August 9, 2013.

    Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at: http://www.nnpdf.org/npdisease%5F01.html. Accessed August 9, 2013.

    NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/niemann/niemann.htm. Updated October 6, 2011. Accessed August 9, 2013.

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