Hyperoxaluria, Primary (Type I)

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hyperoxaluria, Primary (Type I) 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

  • Oxalosis
  • PH Type I

Disorder Subdivisions

  • None

General Discussion

Primary Hyperoxaluria (Type I) is a hereditary disorder characterized by an inborn error of glyoxylate. Excessive formation of oxalate occurs in the liver, resulting in excessive levels of oxalate in the blood and urine. Calcium oxalate does not dissolve and consequently stones are formed in the urinary tract.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

Oxalosis and Hyperoxaluria Foundation
201 East 19th Street
Suite 12E
New York, NY 10003
USA
Tel: (212)777-0470
Fax: (212)777-0471
Tel: (800)643-8699
Email: execdirector@ohf.org
Internet: http://www.ohf.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/

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: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Rare Kidney Stone Consortium
Mayo Clinic
200 First St., SW
Rochester, MN 55901
Tel: (507)266-8265
Fax: (507)255-0770
Tel: (800)270-4637
Email: rarekidneystones@mayo.edu
Internet: http://www.rarekidneystones.org

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:  8/8/2007
Copyright  1987, 1988, 1989, 1995, 2002, 2007 National Organization for Rare Disorders, Inc.

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