Important It is possible that the main title of the report Porphyria, ALA-D is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
ALA-dehydratase deficient porphyria
porphyria of Doss
delta-aminolevulinate dehydratase deficiency
ALAD porphyria is an extremely rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor delta-aminolevulinic acid, which can potentially result in a variety of symptoms. Specific symptoms can vary greatly from one person to another, but usually affect the neurological and gastrointestinal systems. This disease is inherited as an autosomal recessive disorder.
ALAD porphyria is one of a group of disorders known as the porphyrias. The porphyrias are characterized by abnormally high levels of porphyrins and porphyrin precursors in the body due to deficiencies of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. ALAD porphyria is a hepatic form of porphyria.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: email@example.com Internet: http://www.CLIMB.org.uk
American Porphyria Foundation 4900 Woodway, Suite 780 Houston, TX 77056-1837 Tel: (713)266-9617 Fax: (713)840-9552 Tel: (866)273-3635 Email: firstname.lastname@example.org Internet: http://www.porphyriafoundation.com
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British Porphyria Association 136 Devonshire Rd Durham City, DH1 2BL United Kingdom Tel: 01474369231 Email: email@example.com Internet: http://www.porphyria.org.uk
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