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Niemann Pick Disease

Important
It is possible that the main title of the report Niemann Pick Diseaseis not the name you expected.

Synonyms

lipid histiocytosis
lipidosis, sphingomyelin
NPD
sphingomyelinase deficiency
juvenile dystonic lipidosis
DAF syndrome

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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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton
MA
02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
800: (800)906-8723
info@ntsad.org
http://www.NTSAD.org

National Niemann-Pick Disease Foundation, Inc.
401 Madison Avenue
PO Box 49
Suite B
Fort Atkinson
WI
53538-0049
Tel: (920)563-0930
Fax: (920)563-0931
800: (877)287-3672
nnpdf@idcnet.com
http://www.nnpdf.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Ara Parseghian Medical Research Foundation
3530 E. Campo Abierto
Suite 105
Tucson
AZ
85718-3327
USA
Tel: (520)577-5106
Fax: (520)577-5212
victory@parseghian.org
http://www.parseghian.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A
Tel: 50 1 3208320
Fax: 51 1 3384548
abarrera@javeriana.edu.co
http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood
CA
91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
info@hideandseek.org
http://www.hideandseek.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 5/5/2006
Copyright 1986, 1988, 1990, 1993, 1997, 1999, 2000, 2003, 2004, 2005, 2006 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 05, 2006

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