Niemann-Pick Disease
by
Cynthia M. Johnson, MA DefinitionNiemann-Pick disease is a group of problems with body’s metabolism. Fatty material builds up in vital organs, such as the brain. There are four main types:
CausesNiemann-Pick disease is inherited. Both parents must carry the faulty gene for their child to get the disease. The cause depends on the type of Niemann-Pick disease. Types A and BA fatty material called sphingomyelin builds up in the organs. This substance is present in the membrane of most cells. The enzyme sphingomyelinase breaks down this substance. People with type A or B either do not have enough of this enzyme or this enzyme does not work the right way. Without the working enzyme, this fatty material builds up in the cells. The cells die and the organ does not work the right way. Types C and DIn these two types, nerve cells in the brain are not able to move cholesterol out. It builds up, which keeps cells from working the right way. Risk FactorsThis disease affects the following people:
SymptomsSymptoms of Niemann-Pick disease may happen during infancy, childhood, or the teen years. Symptoms vary. They worsen over time. Type ASymptoms start within the first few months of life. They may be:
Type BSymptoms start during pre-teen years. They may be:
Types C and DSymptoms may start in infancy, childhood, or teen years. They may be:
DiagnosisYou will be asked about your child’s symptoms and health history. A physical exam will be done. Your child may have:
TreatmentNiemann-Pick disease can’t be treated. Treatment is aimed at easing symptoms. For example, those with type B may be given oxygen to help with lung problems. PreventionThere is no known way to prevent Niemann-Pick disease. If you have Niemann-Pick disease or have a family history of it, you can talk to a genetic counselor when deciding to have children. RESOURCES:National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov National Niemann-Pick Disease Foundation, Inc. http://www.nnpdf.org CANADIAN RESOURCES:Health Canada http://www.canada.ca Canadian Chapter—National Niemann-Pick Disease Foundation http://www.nnpdf.ca References:Niemann-Pick disease. Genetics Home Reference website. Available at:
https://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated July 3, 2018. Accessed July 6, 2018. Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at: ...(Click grey area to select URL) Updated September 9, 2009. Accessed July 6, 2018. NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at:
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page. Accessed July 6, 2018. Last reviewed May 2018 by Kari Kassir, MD Last Updated: 7/6/2018 | |
EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation. This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition. To send comments or feedback to our Editorial Team regarding the content please email us at healthlibrarysupport@ebsco.com. Our Health Library Support team will respond to your email request within 2 business days. |
Home |Terms and Conditions |Concerned About Privacy? |Accessibility |Careers |For Employers and Medical Plan Providers
Copyright © 2011 Caremark, L.L.C.
You may also be looking for: CVS/pharmacy | MinuteClinic | Specialty Pharmacy | SilverScript | Accordant