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Copyright 1986, 1987, 1988, 1990, 1991, 1993, 1999, 2003, 2007, 2008
NORD is very grateful to Uri S. Alon, MD, Professor of Pediatrics, Director, Bone and Mineral Disorders Clinic, Section of Pediatric Nephrology,The Children's Mercy Hospital and Clinics, for assistance in the preparation of this report.
Synonyms of Cystinuria
- Cistinuria
- Cystine-Lysine-Arginine-Ornithinuria
- Cystinuria with Dibasic Aminoaciduria
Disorder Subdivisions
- Cystinuria, Type I
- Cystinuria, Type II
- Cystinuria, Type III
- Hypercystinuria
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.
Organizations related to Cystinuria
- American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville MD 20852
Phone #: 301-881-3052
800 #: 800-638-8299
e-mail: helpline@kideyfund.org
Home page: http://www.kidneyfund.org
- Cystinuria Support Network
21001 NE 36th Street
Sammamish WA 98074
Phone #: 425-868-2996
800 #: --
e-mail: sue@cystinuria.com
Home page: http://www.cystinuria.com
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- International Cystinuria Foundation Incorporated
712 Great Plains Court
PO Box 271004
Fort Collins CO 80527-1004
Phone #: 970-204-0031
800 #: N/A
e-mail: Matthew.Lewis@colostate.edu
Home page: http://www.cystinuria.org
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Kidney Foundation
30 East 33rd Street
New York NY 10016
Phone #: 212-889-2210
800 #: 800-622-9010
e-mail: info@kidney.org
Home page: http://www.kidney.org
- Pak, Charles Y.C., M.D.
University of Texas South Western Medical Center
5323 Harry Hines Blvd.
Dallas TX 7a5235
Phone #: 214-688-3111
800 #: --
e-mail: N/A
Home page: N/A
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