I Cell Disease

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report I Cell 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

• Leroy Disease
• ML Disorder, Type II
• ML II
• Mucolipidosis II
• GNPTA
• N-Acetylglucosamine-1-Phosphotransferase Deficiency
• Inclusion Cell Disease

Disorder Subdivisions

• None

General Discussion

I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays.



This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Multiple enzyme deficiencies associated with I-cell disease lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.



I-cell disease is caused by a mutation in the GNPTA gene that leads to a deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase. I-cell disease is inherited as an autosomal recessive genetic trait.

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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

Email: info@climb.org.uk

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



Vaincre Les Maladies Lysosomales

2 ter avenue de Fance

Massy, 91300

France

Tel: 01 69 75 40 30

Fax: 01 60 11 15 83

Email: accueil@vml-asso.org

Internet: http://www.vml-asso.org



The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.

PO Box 736

Bangor, ME 04402-0736

Tel: (207)947-1445

Fax: (207)990-3074

Email: info@mpssociety.org

Internet: http://www.mpssociety.org



NIH/National Digestive Diseases Information Clearinghouse

2 Information Way

Bethesda, MD 20892-3570

Tel: (301)654-3810

Fax: (301)907-8906

Tel: (800)891-5389

Email: nddic@info.niddk.nih.gov

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



Society for Mucopolysaccharide Diseases

46 Woodside Road

Amersham

Buckinghamshire, HP6 6AJ

United Kingdom

Tel: 004401494 434156

Fax: 004401494 434252

Email: mps@mpssociety.co.uk

Internet: http://www.mpssociety.co.uk



Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

PO Box 64714

Unionville

Ontario, Intl L3R OM9

Canada

Tel: 905-479-8701

Fax: 905-479-8701

Tel: 800-667-1846

Email: lori.mps@rogers.com

Internet: http://www.mpssociety.ca



International Society for Mannosidosis & Related Diseases, Inc.

1030 Saxon Hill Drive

Cockeysville, MD 21030

USA

Tel: 4106289991

Email: pres@mannosidosis.org

Internet: http://www/mannosidosis.org



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



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:  9/17/2007

Copyright  1988, 1989, 1996, 2003, 2007 National Organization for Rare Disorders, Inc.

Last updated:	September 17, 2007