What is Niemann-Pick disease?
Your body requires an enzyme called sphingomyelinase to break down a specific type of fat which is key in many neural functions. Individuals with Niemann-Pick type A don’t produce this enzyme, which leads to fats accumulation in various organs of the body, such as the lungs, liver and nervous system, and impairs or inhibits cell functions. Niemann-Pick disease has several subtypes, of which type A is most common in Ashkenazi Jews. While other subtypes of the disease may manufacture enzymes on a very limited scale, individuals with type A produce no sphingomyelinase.

Niemann-Pick disease is an autosomal recessive disorder, which means it is it not sex-linked and it must be inherited from two parents who carry a mutation on one copy of the Niemann-Pick gene.

What are the most common symptoms?
Parents may notice an enlarged abdomen which indicates an enlarged liver or spleen, in the first few months of life. Neurologic deficits are generally noted after the first few months, and progressive deterioration follows. Other symptoms include repeated lung infections, a cherry red spot inside the eye, progressive low muscle tone, progressive loss and/or delay of early motor skills, and difficulty in feeding and/or swallowing.

Is there treatment available?
At this time there is no cure or effective treatment for Niemann-Pick disease. Supportive treatment from various specialists can help manage the disease’s symptoms, depending on the symptoms present. For example, one would seek out a pulmonolgist for respiratory issues and a nutritionist for feeding issues. Bone marrow transplantation has been used in some cases, but is still considered experimental. Other therapies are currently under investigation.

What is the life expectancy for someone with Niemann-Pick disease?
Life expectancy is typically 2 to 3 years for an individual with Niemann-Pick disease, Type A.

How do I find out if I am a carrier?
Meet with a genetic counselor to discuss genetic testing, which involves a simple blood test. Visit Screening and Counseling to learn more. The Center encourages prospective parents to get tested for a number of disorders before conception, in order to make the best health care decisions for their families.

How is Niemann-Pick disease diagnosed?
Laboratory testing for a deficiency of a specific enzyme or genetic testing of the Niemann-Pick gene can provide a diagnosis.

Is prenatal diagnosis available?
It is available to those with an affected child or to couples identified by DNA testing as carriers.

How can I find out more about Niemann-Pick disease?

National Niemann-Pick Foundation 
The National Niemann-Pick Disease Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease and strives to provide support services for individuals and families affected by NPD. There is also a Canadian chapter.

Hide and Seek Foundation for Lysosomal Disease Research
Hide and Seek provides information and resources for those affected by lysosomal diseases including Gaucher disease, Mucolipidosis IV, Niemann-Pick disease and Tay-Sachs disease. The foundation is dedicated to finding treatments and cures.

Niemann-Pick Disease Group (UK)
The NPD Group (UK) aims to make a positive difference to families affected by the disease through the provisions of care, information and research.

Associazione Italiana Niemann Pick
Associazione Italiana Niemann Pick provides resources four Italian-speakers affected by the disease.