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

Alkaptonuria


Synonyms of Alkaptonuria
  • Alcaptonuria (alternate spelling for Alkaptonuria)
  • Alkaptonuric Ochronosis
  • Hereditary Alkaptonuria
  • Homogentisic Acid Oxidase Deficiency
  • Homogentisic Acidura
  • Ochronosis
  • Ochronotic Arthritis

Disorder Subdivisions



    General Discussion
    Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life. The condition is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine.

    Organizations related to Alkaptonuria
    • Alkaptonuria Society, LTD
      12 High Beeches
      Childwall, Liverpool None L16 39A
      Phone #: 015-1-7-37-1862
      800 #: N/A
      e-mail: aku.aps@tiscali.co.uk
      Home page: http://www.alkaptonuria.info
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • 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
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info



    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