Aminolevulinic acid dehydratase deficiency porphyria
porphyria that has symptom abdominal pain, has symptom neuropathy, has symptom autonomic instability and has symptom psychosis
Aminolevulinic acid dehydratase deficiency porphyria (also known as Doss porphyria, plumboporphyria, or ADP) is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (ALAD), which is required for normal heme synthesis. This deficiency results in the accumulation of a toxic metabolic precursor in the heme synthesis pathway called aminolevulinic acid (ALA). Lead poisoning can also disrupt ALAD and result in elevated ALA causing the same symptoms. Heme is a component of hemoglobin which carries oxygen in red blood cells.
ALA dehydratase deficiency is a rare cause of hepatic porphyria, meaning that excess porphyrins originate from the liver rather than the bone marrow as in erythropoietic porphyrias.
Signs and symptoms
The clinical presentation of ADP includes a wide range of neurologic and gastrointestinal symptoms.
The disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria. Patients can also have gastrointestinal symptoms during acute attacks, including abdominal cramping, vomiting, and constipation. Gastrointestinal symptoms can result in failure to thrive and poor weight gain in children. Other symptoms that can occur during an acute attack include a rapid heart beat, high blood pressure, and respiratory difficulties.
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This entry incorporates text from “Aminolevulinic acid dehydratase deficiency porphyria” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.