Niemann-Pick disease
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Niemann-Pick disease
Niemann-Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of an enzyme (sphingomyelinase) that 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 heritage.
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 and cause death in early childhood.
- Type B 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.
There is no treatment for Niemann-Pick disease. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.
Credits
| Author | Jeannette Curtis |
| Author | Caroline Rea, RN, BS, MS |
| Editor | Kathleen M. Ariss, MS |
| Editor | Susan Van Houten, RN, BSN, MBA |
| Associate Editor | Tracy Landauer |
| Associate Editor | Pat Truman |
| Primary Medical Reviewer | Patrice Burgess, MD - Family Medicine |
| Primary Medical Reviewer | Adam Husney, MD - Family Medicine |
| Primary Medical Reviewer | Kathleen Romito, MD - Family Medicine |
| Last Updated | May 25, 2007 |
| Last updated: | May 25, 2007 |
|---|---|
| Author: | Caroline Rea, RN, BS, MS |
| Reviewed By: | Kathleen Romito, MD - Family Medicine |
| Editors: | Susan Van Houten, RN, BSN, MBA, Pat Truman |
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