Skip to content
    Font Size
    A
    A
    A

    Porphyria

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

    Disorder Subdivisions

    General Discussion

    Porphyria is a group of at least eight metabolic disorders that arise as a result of a malfunction in one of the eight steps in the body's synthesis of a complex molecule called heme. Heme is essential for the transport of oxygen to cells in the body. If any step in the synthesis of heme is blocked, an intermediate chemical accumulates in the cell, resulting in oxygen depletion. Those intermediate chemicals, known as porphyrins or porphyrin precursors, are the substances of which heme is composed.

    There are two general categories of porphyrias, those that affect the skin and those that affect the nervous system. The former are called cutaneous porphyrias. The latter are called acute porphyrias. Because the symptoms of the various porphyrias may resemble symptoms of other disorders, diagnosis may be difficult.

    Each type of porphyria represents a deficiency of a specific enzyme needed for the synthesis of heme. Treatment is specific to the type of porphyria. The porphyrias are inherited conditions, but don't all follow the same mode of inheritance.

    Resources

    American Porphyria Foundation
    4900 Woodway, Suite 780
    Houston, TX 77056-1837
    Tel: (713)266-9617
    Fax: (713)840-9552
    Tel: (866)273-3635
    Email: porphyrus@aol.com
    Internet: http://www.porphyriafoundation.com

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    Belgian Association for Metabolic Diseases
    Alice Nahonlann 7
    Melsele, 9120
    Belgium
    Tel: 0498701503
    Fax: 037754839
    Email: info@boks.be
    Internet: http://www.boks.be/site/index.php/

    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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 8/26/2005
    Copyright 1990, 1991, 1992, 1994, 1996, 1997, 1998, 2000, 2001, 2004, 2005 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Hot Topics

    WebMD Video: Now Playing

    Click here to wach video: Dirty Truth About Hand Washing

    Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

    Click here to watch video: Dirty Truth About Hand Washing

    Popular Slideshows & Tools on WebMD

    disciplining a boy
    Types, symptoms, causes.
    fruit drinks
    Eat these to think better.
    Balding man in mirror
    Treatments & solutions.
    No gym workout
    Moves to help control blood sugar.
    Remember your finger
    Are you getting more forgetful?
    acupuncture needle on shoulder
    10 tips to look and feel good.
    Close up of eye
    12 reasons you're distracted.
    birth control pills
    Which kind is right for you?
    embarrassed woman
    Do you feel guilty after eating?
    woman biting a big ice cube
    Habits that wreck your teeth.
    pacemaker next to xray
    Treatment options.
    Pink badge on woman chest to support breat cancer
    Myths and facts.

    Pollen counts, treatment tips, and more.

    It's nothing to sneeze at.

    Loading ...

    Sending your email...

    This feature is temporarily unavailable. Please try again later.

    Thanks!

    Now check your email account on your mobile phone to download your new app.

    Women's Health Newsletter

    Find out what women really need.