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Niemann-Pick disease

Other Names for this Disease
  • Sphingomyelin lipidosis
  • Sphingomyelinase deficiency
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Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type.[1] There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood.[1][2] Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.[1] 
Last updated: 4/17/2014


  1. Niemann-Pick disease. Genetics Home Reference (GHR). January 2008; Accessed 4/17/2014.
  2. NINDS Niemann-Pick Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 6, 2011; Accessed 4/17/2014.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Niemann-Pick disease. Click on the link to view a sample search on this topic.

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