Diseases & Conditions


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Niemann Pick Disease


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
    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
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: info@hideandseek.org
    Home page: http://www.hideandseek.org
  • Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 43-82
    S.A. Edificio 53 Lab. 305A None None
    Phone #: 50 -1 3-208320
    800 #: N/A
    e-mail: abarrera@javeriana.edu.co
    Home page: http://www.javeriana.edu.co
  • MUMS (Mothers United for Moral Support, Inc) 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)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: braininfo@ninds.nih.gov
    Home page: http://www.ninds.nih.gov/
  • National Niemann-Pick Disease Foundation, Inc.
    401 Madison Avenue
    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
    Brighton MA 02135
    Phone #: 617-277-4463
    800 #: 800-906-8723
    e-mail: info@ntsad.org
    Home page: http://www.NTSAD.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