Important It is possible that the main title of the report Pseudo Hurler Polydystrophy 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 III alpha/beta
mucolipidosis III alpha/beta
mucolipidosis III alpha/beta
Pseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of certain complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues of the body. The symptoms of this disorder are similar, but less severe than those of I-cell disease (mucolipidosis type II) and may include progressive joint stiffness, curvature of the spine (scoliosis), and/or skeletal deformities of the hands (e.g., claw-hands). Growth delays accompanied by deterioration of the hip joints typically develop in children with pseudo-Hurler polydystrophy. Additional symptoms may include clouding of the corneas of the eyes, mild to moderate coarseness of facial features, mild mental retardation, easy fatigability, and/or heart disease. Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait.
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. Defective lysosomal enzymes associated with pseudo-Hurler polydystrophy leads to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: email@example.com Internet: http://www.CLIMB.org.uk
Vaincre Les Maladies Lysosomales 2 Ter Avenue Massy, 91300 France Tel: 0169754030 Fax: 0160111583 Email: firstname.lastname@example.org Internet: http://www.vml-asso.org
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: email@example.com Internet: http://www.thearc.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/
Society for Mucopolysaccharide Diseases MPS House Repton Place White Lion Road Amersham Buckinghamshire, HP7 9LP United Kingdom Tel: 08453899901 Fax: 08453899902 Email: firstname.lastname@example.org Internet: http://www.mpssociety.co.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc. PO Box 30034 RPO Parkgate North Vancouver British Columbia, V7H 2Y8 Canada Tel: 6049245130 Fax: 6049245131 Tel: 8006671846 Email: email@example.com Internet: http://www.mpssociety.ca
International Advocate For Glycoprotein Storage Diseases 3921 Country Club Drive Lakewood, CA 90712 USA Tel: (410)628-9991 Email: firstname.lastname@example.org Internet: http://www.ismrd.org
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/
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
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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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