Acute 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.