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Copyright 1986, 1988, 1990, 1993, 1997, 1999, 2000, 2003, 2004, 2005, 2006
Synonyms of Niemann Pick Disease
- DAF syndrome
- juvenile dystonic lipidosis
- lipid histiocytosis
- lipidosis, sphingomyelin
- NPD
- sphingomyelinase deficiency
Disorder Subdivisions
- Nieman Pick disease Type A (acute neuronopathic form)
- Nieman Pick disease Type B
- Nieman Pick disease Type C (chronic neuronopathic form)
- Nieman Pick disease Type D (Nova Scotia variant)
- Nieman Pick disease Type E
- Nieman Pick disease Type F (sea-blue histiocyte disease)
General Discussion
Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of impaired trafficking of large molecules within cells, which results in the accumulation of excessive amounts of cholesterol and other lipids (glycosphingolipids) tissues throughout the body. The metabolic defect in type C can lead to a secondary reduction in ASM activity in some cells.
The division of Niemann Pick disease into groups A, B, C and D was proposed by Allan Crocker in 1961 after he and Sidney Farber had expanded the category of Niemann-Pick disease by applying the diagnosis to all patients with "foam cells" and lipid storage in the tissues. This had led to the inclusion of older and less severely affected people than those originally described by Niemann and Pick.
Symptoms common to all types of Niemann-Pick disease include yellow discoloration of the skin, eyes, and/or mucous membranes (jaundice), progressive loss of motor skills, feeding difficulties, learning disabilities, and an abnormally enlarged liver and/or spleen (hepatosplenomegaly). The different types of Niemann-Pick disease are inherited as autosomal recessive traits.
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Organizations related to Niemann Pick Disease
- Ara Parseghian Medical Research Foundation
3530 E. Campo Abierto
Suite 105
Tucson AZ 85718-3327
Phone #: 520-577-5106
800 #: --
e-mail: victory@parseghian.org
Home page: http://www.parseghian.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota None None
Phone #: (57-1) -3208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co/ieim/programas_ieim.htm
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- National Niemann-Pick Disease Foundation, Inc.
401 Madison Avenue
Suite B
PO Box 49
Fort Atkinson WI 53538-0049
Phone #: 920-563-0930
800 #: 877-287-3672
e-mail: nnpdf@nnpdf.com
Home page: http://www.nnpdf.org
- National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
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