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Niemann Pick Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Niemann Pick Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

204

Brookline, MA 02146-4227

USA

Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723

Email: info@ntsad.org

Internet: http://www.NTSAD.org



National Niemann-Pick Disease Foundation, Inc.

401 Madison Avenue

Suite B

PO Box 49

Fort Atkinson, WI 53538-0049

Tel: (920)563-0930

Fax: (920)563-0931

Tel: (877)287-3672

Email: nnpdf@nnpdf.com

Internet: http://www.nnpdf.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: 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

Email: victory@parseghian.org

Internet: http://www.parseghian.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Instituto de Errores Innatos del Metabolismo

Carrera 7 No 40 - 62

Bogota,

Colombia

Tel: 5713208320

Email: abarrera@javeriana.edu.co

Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm



Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Internet: http://www.hideandseek.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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