Skip to Content

Menu Icon
Menu
Menu Icon

Pseudo Hurler Polydystrophy

National Organization for Rare Disorders, Inc.

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.

Synonyms

  • ML III alpha/beta
  • mucolipidosis IIIA
  • ML IIIA
  • mucolipidosis III alpha/beta

Disorder Subdivisions

  • mucolipidosis III alpha/beta

General Discussion

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.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 Ter Avenue
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
1660 L Street, NW, Suite 301
Washington, DC 20036
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
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: 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 30034
RPO Parkgate
North Vancouver
British Columbia, Intl V7H 2Y8
Canada
Tel: (604) 924-5130
Fax: (604) 924-5131
Tel: 1-800-667-1846
Email: info@mpssociety.ca
Internet: http://www.mpssociety.ca

International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga, CA 95070
USA
Tel: (410)628-9991
Email: info@ismrd.org
Internet: http://www.ismrd.org

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: mums@netnet.net
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/

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: info@hideandseek.org
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: mps@hk-mps.com
Internet: http://www.hk-mps.com/en/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  5/25/2008
Copyright  1986, 1988, 1990, 1996, 1998, 2005 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

Decision Points

Our interactive Decision Points guide you through making key health decisions by combining medical information with your personal information.

You'll find Decision Points to help you answer questions about:

Interactive Tools

Get started learning more about your health!

Our Interactive Tools can help you make smart decisions for a healthier life. You'll find personal calculators and tools for health and fitness, lifestyle checkups, and pregnancy.

Symptom Checker

Feeling under the weather?

Use our interactive symptom checker to evaluate your symptoms and determine appropriate action or treatment.