Important It is possible that the main title of the report Mucolipidosis IV 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.
ML Disorder IV
Ganglioside Sialidase Deficiency
Ganglioside Neuraminidase Deficiency
Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.
Mucolipidosis IV is characterized by mental retardation; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and/or degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is thought to be inherited as an autosomal recessive genetic trait.
MucolipidosisType IV Foundation 719 E. 17th Street Brooklyn, NY 11230 Tel: (718)434-5067 Fax: (718)859-7371 Tel: (877)654-5459 Email: firstname.lastname@example.org Internet: http://www.ML4.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases Office of Communications & Public Liaison Bldg 31, Rm 9A06 31 Center Drive, MSC 2560 Bethesda, MD 20892-2560 Tel: (301)496-3583 Email: NDDIC@info.niddk.nih.gov Internet: http://www2.niddk.nih.gov/
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: email@example.com Internet: http://www.netnet.net/mums/
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/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
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: email@example.com Internet: http://www.hideandseek.org
Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group G/F Wang Lai House Wang Tau Hom Estate Kowloon, Hong Kong Tel: 852-2794-3010 Fax: 852 2338 4820 Email: firstname.lastname@example.org Internet: http://www.hk-mps.com/en/
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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
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Last Updated: 5/8/2008 Copyright 1986, 1988, 1990, 1995, 1996, 1997, 1998, 1999, 2002 National Organization for Rare Disorders, Inc.
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