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

Porphyria


Synonyms of Porphyria

    Disorder Subdivisions

    • Acute Intermittent Porphyria
    • ALA-D Porphyria
    • Congenital Erythropoietic Porphyria
    • Hereditary Coproporphyria
    • Porphyria Cutanea Tarda
    • Protoporphyria
    • Variegate Porphyria


    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.

    Organizations related to Porphyria
    • American Porphyria Foundation
      4900 Woodway
      Houston TX 77056
      Phone #: 713-266-9617
      800 #: --
      e-mail: porphyrus@aol.com
      Home page: http://www.porphyriafoundation.com
    • Belgian Association for Metabolic Diseases (BOKS)
      Alice Nahonlann 7
      Melsele None 9120
      Phone #: 323-775-4839
      800 #: N/A
      e-mail: info@boks.be
      Home page: http://www.boks.be
    • Canadian Association for Porphyria
      P.O. Box 1206
      Manitoba Intl ROJ 1HO
      Phone #: (20-4)4-76-2800
      800 #: N/A
      e-mail: N/A
      Home page: http://www.cpf-inc.ca/
    • 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
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    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