Other terms
Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,Porphyrias, Acute Intermittent,Acute Porphyria,Acute Porphyrias,Porphyria, Acute,Porphyrias, Acute,Hydroxymethylbilane Synthase Deficiency,Deficiencies, Hydroxymethylbilane Synthase,Deficiency, Hydroxymethylbilane Synthase,Hydroxymethylbilane Synthase Deficiencies,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiency, Hydroxymethylbilane,Uroporphyrinogen Synthase Deficiency,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Uroporphyrinogen Synthase,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Uroporphyrinogen,Uroporphyrinogen Synthase Deficiencies
Description
Porphyria, Acute Intermittent: 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.
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