Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Cystinuria


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
    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: cystinuria@aol.com
    Home page: http://www.cystinuria.com
  • International Cystinuria Foundation Incorporated
    712 Great Plains Court
    Fort Collins CO 80526
    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 #: 914-428-7100
    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
    Dallas TX 7a5235
    Phone #: 214-688-3111
    800 #: --
    e-mail: N/A
    Home page: N/A



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html