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I Cell Disease
Important
It is possible that the main title of the report I Cell Diseaseis not the name you expected.
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
info@climb.org.uk
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
accueil@vml-asso.org
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/
National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham
NC
27709-4686
Tel: (919)806-0101
Fax: (919)806-2055
info@mpssociety.org
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
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
Society for Mucopolysaccharide Diseases
46 Woodside Road
Amersham
Buckinghamshire
HP6 6AJ
United Kingdom
Tel: 004401494 434156
Fax: 004401494 434252
mps@mpssociety.co.uk
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
800: 800-667-1846
lori.mps@rogers.com
http://www.mpssociety.ca
International Society for Mannosidosis & Related Diseases, Inc.
1030 Saxon Hill Drive
Cockeysville
MD
21030
USA
Tel: (410)628-9991
pres@mannosidosis.org
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: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
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
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: 9/17/2007
Copyright 1988, 1989, 1996, 2003, 2007 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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