Niemann-Pick disease (type A) is a severe neurodegenerative condition in which a harmful amount of a fatty substance accumulates in various organs, causing rapid deterioration and death in infancy. Symptoms appear by about 6 months of age and include loss of brain function and enlargement of the liver and spleen.
If you have just received a diagnosis there is help and support available – please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.
Niemann-Pick disease (type A) is an autosomal recessive condition.
Of the three main types of Niemann-Pick disease (type A, B and C), type A is the only one which is more prevalent among people of Ashkenazi Jewish ancestry relative to the general population.
The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 90.
Children with Niemann-Pick disease (type A) usually appear normal at birth then begin to show symptoms within the first few months of life. Common signs and symptoms of the disease include:
- Abdominal swelling – due to enlarged liver and/or spleen
- Difficulty in feeding and/or swallowing
- Progressive loss and/or delay of early motor skills
- Progressive low muscle tone
- A ‘cherry red spot’ inside the eye (visible only by special exam)
- Prolonged jaundice and progressive liver failure
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The disorder is caused by changes in a gene that leads to a severe deficiency in production of the enzyme acid sphingomyelinase (ASM), essential in the breakdown of a fatty substance called sphingomyelin (SM). As a result of this enzyme deficiency, harmful amounts of this fatty substance accumulate in different parts of the body including the liver, spleen, nervous system, brain and other areas.
There is currently no cure or effective treatment for Niemann-Pick disease (type A). Supportive treatments from various specialists can help manage symptoms of the disease but do not affect disease progression. Research into medications and enzyme replacement therapies is being done to find improved treatments.
Typically, children with Niemann-Pick (type A) do not survive past five years of age, usually due to infections such as pneumonia.
The disease can be diagnosed using a simple blood test which involves measuring the ASM enzyme activity in the blood sample taken. The diagnosis can be confirmed through genetic testing which analyses the DNA from a blood sample to identify whether or not the mutation for Niemann-Pick (type A) is present.
Both carrier testing and prenatal diagnosis are now possible for this condition. Testing for the common mutations among people of Ashkenazi Jewish ancestry allows a detection rate for carriers of about 95%.
For more details about testing, please refer to the testing section.
This UK-based group aims to make a positive difference to families affected by Niemann-Pick disease through the provision of a range of services covering care, information and research. The website presents information on all types of the disease, care and support services in the UK, research developments and links to other national and international resources.
Telephone: 0191 415 0693
This USA-based Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick disease and aims to provide support services for affected individuals and families. It also has a Canadian chapter.
An open group on Facebook dedicated to spreading awareness of Niemann-Pick disease.
To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.