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Acute Intermittent Porphyrias

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.