Porphyria, Acute Intermittent |
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| Acute Porphyria; Acute Intermittent Porphyria; Acute Intermittent Porphyrias; Acute Porphyrias; Intermittent Porphyria, Acute; Intermittent Porphyrias, Acute; Porphyria, Acute; Porphyrias, Acute; Porphyrias, 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. | |