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Porphyria, ALA-D
Abstract
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NORD is very grateful to Joseph R. Bloomer, MD, Professor of Medicine and Genetics, Director of the Liver Center, University of Alabama at Birmingham, for assistance in the preparation of this report.
Synonyms of Porphyria, ALA-D
- ADP
- ALAD deficiency
- ALA-dehydratase deficient porphyria
- delta-aminolevulinate dehydratase deficiency
- Doss porphyria
- porphyria of Doss
Disorder Subdivisions
- No subdivisions found.
General Discussion
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.
Organizations related to Porphyria, ALA-D
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