Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition. More detailed information about the symptoms, causes, and treatments of Acute intermittent porphyria is available below.
See full list of 30 symptoms of Acute intermittent porphyria
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Prognosis for Acute intermittent porphyria: variable duration of attacks which are occasionally fatal
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
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Types of Acute intermittent porphyria
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An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. - (Source - Diseases Database)
Acute intermittent porphyria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Acute intermittent porphyria, or a subtype of Acute intermittent porphyria,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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