Niemann Pick Disease

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, Intl CW2 6BG

United Kingdom

Tel: +44 870 7700 325

Fax: +44 870 7700 327

Email: info@climb.org.uk

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



National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

Suite 204

Brighton, MA 02135

USA

Tel: 6172774463

Fax: 6172770134

Tel: 8009068723

Email: info@ntsad.org

Internet: http://www.NTSAD.org



National Niemann-Pick Disease Foundation, Inc.

PO Box 49

401 Madison Avenue

Suite B

Fort Atkinson, WI 53538-0049

Tel: (920)563-0930

Fax: (920)563-0931

Tel: (877)287-3672

Email: nnpdf@idcnet.com

Internet: 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

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/



Ara Parseghian Medical Research Foundation

3530 E. Campo Abierto

Suite 105

Tucson, AZ 85718-3327

USA

Tel: 5205775106

Fax: 5205775212

Email: victory@parseghian.org

Internet: http://www.parseghian.org



Instituto de Errores Innatos del Metabolismo

Carrera 7 No 43-82

Bogota, Columbia

S.A. Edificio 53 Lab. 305A,

Tel: (50 )1 3-208320

Fax: (51 )1 3-384548

Email: abarrera@javeriana.edu.co

Internet: 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

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, 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.