Niemann-Pick disease is a rare inherited degenerative nerve
disease caused by the deficiency of the enzyme called sphingomyelinase, which
leads to the buildup of a fatty substance (sphingomyelin) in cells in the
liver, spleen, lymph nodes, and bone marrow. Niemann-Pick disease is most
commonly seen in families of Eastern European (Ashkenazi) Jewish
At least five types of Niemann-Pick disease have been
identified. The most common are type A and type B.
Type A usually causes symptoms by 6 months of
age. Symptoms may include feeding difficulty, vomiting, and abdominal
distention from an enlarged spleen and liver. Some babies have a cherry-red
spot in the membrane that lines the back of the eye (retina). Infections such
as pneumonia are common. Death usually occurs by the age of 4.
disease is a milder form that does not affect the brain. Children are usually
diagnosed during early childhood because of enlargement of the liver or spleen.
Teenagers with type B disease may have frequent lung infections. Most people
with type B Niemann-Pick disease live into their 30s or 40s.
usually shows up during childhood. It can cause breathing problems, liver
disease, developmental delays, seizures, low muscle tone, and feeding problems.
It is the rarest type of Niemann-Pick disease. Most people with type C die by
the age of 20. The kind of genetic change (mutation) determines whether a
person has type C1 or C2.
There is no treatment for Niemann-Pick disease. Support
groups and counseling can be helpful for people with Niemann-Pick disease and
for their families. Genetic testing is recommended to identify carriers of the
disease and help guide decisions about having children.
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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