I Cell Disease / Disease

Diseases & Conditions

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I Cell Disease

Synonyms of I Cell Disease

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

Disorder Subdivisions

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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Organizations related to I Cell Disease

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
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: lori.mps@rogers.com
Home page: http://www.mpssociety.ca
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
International Society for Mannosidosis & Related Diseases, Inc.
1030 Saxon Hill Drive
Cockeysville MD 21030
Phone #: 410-628-9991
800 #: N/A
e-mail: pres@mannosidosis.org
Home page: http://www/mannosidosis.org
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/
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham NC 27709-4686
Phone #: 919-806-0101
800 #: --
e-mail: info@mpssociety.org
Home page: http://www.mpssociety.org
Society for Mucopolysaccharide Diseases
46 Woodside Road
Buckinghamshire None HP6 6AJ
Phone #: 004-401-494 434156
800 #: --
e-mail: mps@mpssociety.co.uk
Home page: http://www.mpssociety.co.uk
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.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