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It is possible that the main title of the report Cystinuria is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

American Kidney Fund, Inc.

11921 Rockville Pike
Suite 300
Rockville, MD 20852
Tel: (800)638-8299

Cystinuria Support Network

22814 NE 21st Place
Redmond, WA 98053
Tel: (425)868-2996
Fax: (425)897-0675

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

International Cystinuria Foundation

712 Great Plains Court
PO Box 271004
Fort Collins, CO 80527-1004
Tel: (970)204-0031

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: or
Website: and

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010

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

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 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.