National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Cystinuria is not the name you expected.
Cystinuria is an inherited metabolic disorder characterized by the abnormal movement (transport) in the intestines and kidneys, of certain organic chemical compounds (amino acids). These include cystine, lysine, arginine, and ornithine. Excessive amounts of undissolved cystine in the urine (cystinuria) cause the formation of stones (calculi) in the kidney, bladder, and/or ureter.
Four subtypes of Cystinuria are recognized. In Type I Cystinuria, there is a defect in the active transport of cystine and the amino acids (dibasic) lysine, arginine, and ornithine in the kidneys and small intestine. People who are carriers of the gene for this type of the disorder generally have no symptoms. In Type II Cystinuria, cystine and lysine transport is severely impaired in the kidneys and only somewhat impaired in the intestines. In Type III Cystinuria, kidney transport of cystine and lysine is defective; intestinal transport is normal. People who are carriers of the gene for this variety of the disease typically have slightly elevated levels of cystine and lysine in the urine. In Hypercystinuria, there is generally a moderate elevation of cystine in the urine; intestinal absorption of cystine and the dibasic amino acids is normal.
American Kidney Fund, Inc.
- 11921 Rockville Pike
- Suite 300
- Rockville, MD 20852
- Tel: (800)638-8299
- Email: email@example.com
- Website: http://www.kidneyfund.org
Cystinuria Support Network
- 22814 NE 21st Place
- Redmond, WA 98053
- Tel: (425)868-2996
- Fax: (425)897-0675
- Email: firstname.lastname@example.org
- Website: http://www.cystinuria.com
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
- Website: http://rarediseases.info.nih.gov/GARD/
International Cystinuria Foundation
- 712 Great Plains Court
- PO Box 271004
- Fort Collins, CO 80527-1004
- Tel: (970)204-0031
- Email: Matthew.Lewis@colostate.edu
- Website: http://www.cystinuria.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or email@example.com
- Website: http://www.marchofdimes.org and nacersano.org
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
- Email: firstname.lastname@example.org
- Website: http://www.kidney.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: email@example.com
- Website: http://www.rarekidneystones.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 11/17/2008
Copyright 2008 National Organization for Rare Disorders, Inc.
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