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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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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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